Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Identifieur interne : 003192 ( Main/Exploration ); précédent : 003191; suivant : 003193Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Auteurs : Marie Coutelier [France, Belgique] ; Cyril Goizet [France] ; Alexandra Durr [France] ; Florence Habarou [France] ; Sara Morais [France, Portugal] ; Alexandre Dionne-Laporte [Canada] ; Feifei Tao [États-Unis] ; Juliette Konop [France] ; Marion Stoll [Australie] ; Perrine Charles [France] ; Maxime Jacoupy [France] ; Raphaël Matusiak [France] ; Isabel Alonso [Portugal] ; Chantal Tallaksen [France] ; Mathilde Mairey [France] ; Marina Kennerson [Australie] ; Marion Gaussen [France] ; Rebecca Schule [États-Unis, Allemagne] ; Maxime Janin [France] ; Fanny Morice-Picard [France] ; Christelle M. Durand [France] ; Christel Depienne [France] ; Patrick Calvas [France] ; Paula Coutinho [Portugal] ; Jean-Marie Saudubray [France] ; Guy Rouleau [Canada] ; Alexis Brice [France] ; Garth Nicholson [Australie] ; Frédéric Darios [France] ; José L. Loureiro [Portugal] ; Stephan Zuchner [États-Unis] ; Chris Ottolenghi [France] ; Fanny Mochel [France] ; Giovanni Stevanin [France]Source :
- Brain [ 0006-8950 ] ; 2015.
Descripteurs français
- KwdFr :
- Acide glutamique (métabolisme), Adolescent, Adulte, Adulte d'âge moyen, Aldehyde dehydrogenase (génétique), Arginine (métabolisme), Femelle, Humains, Jeune adulte, Mutation (génétique), Mâle, Ornithine (génétique), Ornithine (métabolisme), Paraplégie spasmodique héréditaire (génétique), Paraplégie spasmodique héréditaire (métabolisme), Pedigree, Phénotype.
- MESH :
- génétique : Aldehyde dehydrogenase, Mutation, Ornithine, Paraplégie spasmodique héréditaire.
- métabolisme : Acide glutamique, Arginine, Ornithine, Paraplégie spasmodique héréditaire.
- Adolescent, Adulte, Adulte d'âge moyen, Femelle, Humains, Jeune adulte, Mâle, Pedigree, Phénotype.
English descriptors
- KwdEn :
- Adolescent, Adult, Aldehyde Dehydrogenase (genetics), Arginine (metabolism), Female, Glutamic Acid (metabolism), Humans, Male, Middle Aged, Mutation (genetics), Ornithine (genetics), Ornithine (metabolism), Pedigree, Phenotype, Spastic Paraplegia, Hereditary (genetics), Spastic Paraplegia, Hereditary (metabolism), Young Adult.
- MESH :
- chemical , genetics : Aldehyde Dehydrogenase, Ornithine.
- chemical , metabolism : Arginine, Glutamic Acid, Ornithine.
- genetics : Mutation, Spastic Paraplegia, Hereditary.
- metabolism : Spastic Paraplegia, Hereditary.
- Adolescent, Adult, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Young Adult.
Abstract
Mutations in
Url:
DOI: 10.1093/brain/awv143
PubMed: 26026163
PubMed Central: 4553756
Affiliations:
- Allemagne, Australie, Belgique, Canada, France, Portugal, États-Unis
- Bade-Wurtemberg, District de Tübingen, Floride, Midi-Pyrénées, Nouvelle-Galles du Sud, Occitanie (région administrative), Québec, Région de Bruxelles-Capitale, Île-de-France
- Bruxelles, Louvain-la-Neuve, Montréal, Paris, Sydney, Toulouse, Tübingen
- Université McGill, Université catholique de Louvain, Université de Sydney
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Le document en format XML
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Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. 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du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation wicri:level="2"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF17">17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Durand, Christelle M" sort="Durand, Christelle M" uniqKey="Durand C" first="Christelle M." last="Durand">Christelle M. Durand</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF19">19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea><wicri:noRegion>Santa Maria da Feira</wicri:noRegion></affiliation></author><author><name sortKey="Saudubray, Jean Marie" sort="Saudubray, Jean Marie" uniqKey="Saudubray J" first="Jean-Marie" last="Saudubray">Jean-Marie Saudubray</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. 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type="wicri:doubleKey">0006-8950:2015:Coutelier M:alteration:of:ornithine</idno><idno type="wicri:Area/Main/Merge">003193</idno><idno type="wicri:Area/Main/Curation">003192</idno><idno type="wicri:Area/Main/Exploration">003192</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia</title><author><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="awv143-AFF5">5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Habarou, Florence" sort="Habarou, Florence" uniqKey="Habarou F" first="Florence" last="Habarou">Florence Habarou</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name><affiliation wicri:level="2"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. 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France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF13">13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>13 Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><affiliation wicri:level="2"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF17">17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>17 Centre for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF18">18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>18 German Centre of Neurodegenerative Diseases (DZNE), Eberhard-Karls-University, G-72074, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF8">8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>8 CHU Pellegrin, Service de Génétique Médicale, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Durand, Christelle M" sort="Durand, Christelle M" uniqKey="Durand C" first="Christelle M." last="Durand">Christelle M. Durand</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF7">7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>7 Univ. Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme, EA4576, F-33000, Bordeaux</wicri:regionArea><wicri:noRegion>33000, Bordeaux</wicri:noRegion><wicri:noRegion>33000, Bordeaux</wicri:noRegion></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF19">19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>19 Fédération de Neurologie et Service de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31059, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF12">12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>12 Instituto de Investigação e Inovação em Saúde, Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea><wicri:noRegion>Santa Maria da Feira</wicri:noRegion></affiliation></author><author><name sortKey="Saudubray, Jean Marie" sort="Saudubray, Jean Marie" uniqKey="Saudubray J" first="Jean-Marie" last="Saudubray">Jean-Marie Saudubray</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF14">14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>14 Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="awv143-AFF21">21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>21 Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="4"><nlm:aff id="awv143-AFF16">16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>16 Northcott Neuroscience Laboratory, ANZAC Research Institute; Molecular Medicine Laboratory, Concord Hospital; Sydney Medical School University of Sydney, NSW 2138, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. Loureiro</name><affiliation wicri:level="1"><nlm:aff id="awv143-AFF11">11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>11 UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, P-4150, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv143-AFF20">20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>20 Serviço de Neurologia, Centro Hospitalar de Entre o Douro e Vouga, P-4520‐211, Santa Maria da Feira</wicri:regionArea><wicri:noRegion>Santa Maria da Feira</wicri:noRegion></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation wicri:level="2"><nlm:aff id="awv143-AFF15">15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>15 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF10">10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>10 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="3"><nlm:aff id="awv143-AFF1">1 INSERM, U 1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>1 INSERM, U 1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF2">2 CNRS, UMR 7225, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>2 CNRS, UMR 7225, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF3">3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF4">4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF6">6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>6 Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awv143-AFF9">9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aldehyde Dehydrogenase (genetics)</term><term>Arginine (metabolism)</term><term>Female</term><term>Glutamic Acid (metabolism)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Ornithine (genetics)</term><term>Ornithine (metabolism)</term><term>Pedigree</term><term>Phenotype</term><term>Spastic Paraplegia, Hereditary (genetics)</term><term>Spastic Paraplegia, Hereditary (metabolism)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Acide glutamique (métabolisme)</term><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Aldehyde dehydrogenase (génétique)</term><term>Arginine (métabolisme)</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Mutation (génétique)</term><term>Mâle</term><term>Ornithine (génétique)</term><term>Ornithine (métabolisme)</term><term>Paraplégie spasmodique héréditaire (génétique)</term><term>Paraplégie spasmodique héréditaire (métabolisme)</term><term>Pedigree</term><term>Phénotype</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aldehyde Dehydrogenase</term><term>Ornithine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Arginine</term><term>Glutamic Acid</term><term>Ornithine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Aldehyde dehydrogenase</term><term>Mutation</term><term>Ornithine</term><term>Paraplégie spasmodique héréditaire</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Acide glutamique</term><term>Arginine</term><term>Ornithine</term><term>Paraplégie spasmodique héréditaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mutations in <italic>ALDH18A1</italic>, encoding an enzyme involved in glutamate metabolism, have been implicated in an autosomal recessive neurocutaneous disorder. Coutelier <italic>et al.</italic> widen the associated phenotype to include spastic paraplegia without cutaneous signs. They also report autosomal dominant transmission of <italic>ALDH18A1</italic> mutations, associated with abnormal levels of plasma amino acids.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Portugal</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Floride</li><li>Midi-Pyrénées</li><li>Nouvelle-Galles du Sud</li><li>Occitanie (région administrative)</li><li>Québec</li><li>Région de Bruxelles-Capitale</li><li>Île-de-France</li></region><settlement><li>Bruxelles</li><li>Louvain-la-Neuve</li><li>Montréal</li><li>Paris</li><li>Sydney</li><li>Toulouse</li><li>Tübingen</li></settlement><orgName><li>Université McGill</li><li>Université catholique de Louvain</li><li>Université de Sydney</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name></region><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><name sortKey="Darios, Frederic" sort="Darios, Frederic" uniqKey="Darios F" first="Frédéric" last="Darios">Frédéric Darios</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><name sortKey="Durand, Christelle M" sort="Durand, Christelle M" uniqKey="Durand C" first="Christelle M." last="Durand">Christelle M. Durand</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><name sortKey="Gaussen, Marion" sort="Gaussen, Marion" uniqKey="Gaussen M" first="Marion" last="Gaussen">Marion Gaussen</name><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><name sortKey="Habarou, Florence" sort="Habarou, Florence" uniqKey="Habarou F" first="Florence" last="Habarou">Florence Habarou</name><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><name sortKey="Janin, Maxime" sort="Janin, Maxime" uniqKey="Janin M" first="Maxime" last="Janin">Maxime Janin</name><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><name sortKey="Konop, Juliette" sort="Konop, Juliette" uniqKey="Konop J" first="Juliette" last="Konop">Juliette Konop</name><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><name sortKey="Mairey, Mathilde" sort="Mairey, Mathilde" uniqKey="Mairey M" first="Mathilde" last="Mairey">Mathilde Mairey</name><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><name sortKey="Matusiak, Raphael" sort="Matusiak, Raphael" uniqKey="Matusiak R" first="Raphaël" last="Matusiak">Raphaël Matusiak</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><name sortKey="Morice Picard, Fanny" sort="Morice Picard, Fanny" uniqKey="Morice Picard F" first="Fanny" last="Morice-Picard">Fanny Morice-Picard</name><name sortKey="Ottolenghi, Chris" sort="Ottolenghi, Chris" uniqKey="Ottolenghi C" first="Chris" last="Ottolenghi">Chris Ottolenghi</name><name sortKey="Saudubray, Jean Marie" sort="Saudubray, Jean Marie" uniqKey="Saudubray J" first="Jean-Marie" last="Saudubray">Jean-Marie Saudubray</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name><name sortKey="Tallaksen, Chantal" sort="Tallaksen, Chantal" uniqKey="Tallaksen C" first="Chantal" last="Tallaksen">Chantal Tallaksen</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Coutelier, Marie" sort="Coutelier, Marie" uniqKey="Coutelier M" first="Marie" last="Coutelier">Marie Coutelier</name></region></country><country name="Portugal"><noRegion><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name></noRegion><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><name sortKey="Alonso, Isabel" sort="Alonso, Isabel" uniqKey="Alonso I" first="Isabel" last="Alonso">Isabel Alonso</name><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. Loureiro</name><name sortKey="Loureiro, Jose L" sort="Loureiro, Jose L" uniqKey="Loureiro J" first="José L." last="Loureiro">José L. Loureiro</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name><name sortKey="Morais, Sara" sort="Morais, Sara" uniqKey="Morais S" first="Sara" last="Morais">Sara Morais</name></country><country name="Canada"><region name="Québec"><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name></region><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Tao, Feifei" sort="Tao, Feifei" uniqKey="Tao F" first="Feifei" last="Tao">Feifei Tao</name></region><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Stoll, Marion" sort="Stoll, Marion" uniqKey="Stoll M" first="Marion" last="Stoll">Marion Stoll</name></region><name sortKey="Kennerson, Marina" sort="Kennerson, Marina" uniqKey="Kennerson M" first="Marina" last="Kennerson">Marina Kennerson</name><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name></region><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schule">Rebecca Schule</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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