The p.Asp216His TOR1A allele effect is not found in the French population
Identifieur interne : 001412 ( Istex/Curation ); précédent : 001411; suivant : 001413The p.Asp216His TOR1A allele effect is not found in the French population
Auteurs : Mélissa Yana Frédéric [France] ; Fabienne Clot [France] ; Arnaud Blanchard [France] ; Claire-Marie Dhaenens [France] ; Gaëtan Lesca [France] ; Laura Cif [France] ; Alexandra Dürr [France] ; Marie Vidailhet [France] ; Bernard Sablonniere [France] ; Alain Calender [France] ; Maria Martinez [France] ; Nicolas Molinari [France] ; Alexis Brice [France] ; Mireille Claustres [France] ; Sylvie Tuffery-Giraud [France] ; Gwenaëlle Collod-Beroud [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-30.
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Abstract
DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22407
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Mélissa Yana Frédéric<affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation>Le document en format XML
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(IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><affiliation wicri:level="1"><mods:affiliation>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea></affiliation></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><affiliation wicri:level="1"><mods:affiliation>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U563, Toulouse, F‐31024, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U563, Toulouse, F‐31024</wicri:regionArea></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="1"><mods:affiliation>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea></affiliation></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103F</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22407</idno><idno type="url">https://api.istex.fr/document/DB787F55A9A4FE6C41D77828B89D3783BA73103F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001412</idno><idno type="wicri:Area/Istex/Curation">001412</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><affiliation wicri:level="1"><mods:affiliation>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><affiliation wicri:level="1"><mods:affiliation>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea></affiliation></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><affiliation wicri:level="1"><mods:affiliation>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea></affiliation></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie, Montpellier, F‐34000</wicri:regionArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><mods:affiliation>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="1"><mods:affiliation>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><affiliation wicri:level="1"><mods:affiliation>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea></affiliation></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><affiliation wicri:level="1"><mods:affiliation>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U563, Toulouse, F‐31024, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U563, Toulouse, F‐31024</wicri:regionArea></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="1"><mods:affiliation>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea></affiliation></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation><mods:affiliation>Université MONTPELLIER1, UFR Médecine, Montpellier, F‐34000 France</mods:affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-04-30">2009-04-30</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="919">919</biblScope><biblScope unit="page" to="921">921</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DB787F55A9A4FE6C41D77828B89D3783BA73103F</idno><idno type="DOI">10.1002/mds.22407</idno><idno type="ArticleID">MDS22407</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT1</term><term>TOR1A</term><term>dystonia</term><term>genetic modifiers</term><term>movement disorders</term><term>population studies</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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|area= MovDisordV3
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|texte= The p.Asp216His TOR1A allele effect is not found in the French population
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