The p.Asp216His TOR1A allele effect is not found in the French population
Identifieur interne : 002020 ( Main/Curation ); précédent : 002019; suivant : 002021The 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.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Alleles, Aspartic Acid (genetics), DNA Mutational Analysis, DYT1, Dystonic Disorders (genetics), France (epidemiology), France (ethnology), Gene Frequency, Histidine (genetics), Humans, Molecular Chaperones (genetics), Polymorphism, Single Nucleotide (genetics), TOR1A, dystonia, genetic modifiers, movement disorders, population studies.
- MESH :
- chemical , genetics : Aspartic Acid, Histidine, Molecular Chaperones.
- geographic , epidemiology : France.
- geographic , ethnology : France.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Alleles, DNA Mutational Analysis, Gene Frequency, Humans.
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
Url:
- https://api.istex.fr/document/DB787F55A9A4FE6C41D77828B89D3783BA73103F/fulltext/pdf
- http://www.hal.inserm.fr/inserm-00396259
DOI: 10.1002/mds.22407
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001412
- to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :001412
- to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000C22
- to stream Hal, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000063
- to stream Hal, to step Curation: Pour aller vers cette notice dans l'étape Curation :000063
- to stream Hal, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000028
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001D86
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001D86
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001B34
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002591
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :002591
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002591
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :002881
Links to Exploration step
ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103FCuration
No country items
Mélissa Yana Frédéric<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title 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>
</author>
<author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name>
</author>
<author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name>
</author>
<author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name>
</author>
<author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name>
</author>
<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
</author>
<author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name>
</author>
<author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name>
</author>
<author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
</author>
<author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
</author>
<author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name>
</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>
<idno type="wicri:Area/Istex/Checkpoint">000C22</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Frederic M:the:p:asp</idno>
<idno type="wicri:source">HAL</idno>
<idno type="RBID">Hal:inserm-00396259</idno>
<idno type="url">http://www.hal.inserm.fr/inserm-00396259</idno>
<idno type="wicri:Area/Hal/Corpus">000063</idno>
<idno type="wicri:Area/Hal/Curation">000063</idno>
<idno type="wicri:Area/Hal/Checkpoint">000028</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Frederic M:the:p:asp</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:19260107</idno>
<idno type="wicri:Area/PubMed/Corpus">001D86</idno>
<idno type="wicri:Area/PubMed/Curation">001D86</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001B34</idno>
<idno type="wicri:Area/Ncbi/Merge">002591</idno>
<idno type="wicri:Area/Ncbi/Curation">002591</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002591</idno>
<idno type="wicri:Area/Main/Merge">002881</idno>
<idno type="wicri:Area/Main/Curation">002020</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="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<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="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<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="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea>
<placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea>
<placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
<orgName type="university">Université Claude Bernard Lyon1</orgName>
</affiliation>
</author>
<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea>
<placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea>
<placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
<orgName type="university">Université Claude Bernard Lyon1</orgName>
</affiliation>
</author>
<author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U563, Toulouse, F‐31024</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</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"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</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="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<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="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<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>Alleles</term>
<term>Aspartic Acid (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>DYT1</term>
<term>Dystonic Disorders (genetics)</term>
<term>France (epidemiology)</term>
<term>France (ethnology)</term>
<term>Gene Frequency</term>
<term>Histidine (genetics)</term>
<term>Humans</term>
<term>Molecular Chaperones (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>TOR1A</term>
<term>dystonia</term>
<term>genetic modifiers</term>
<term>movement disorders</term>
<term>population studies</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term>
<term>Histidine</term>
<term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>France</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Gene Frequency</term>
<term>Humans</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002020 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 002020 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Curation |type= RBID |clé= ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103F |texte= The p.Asp216His TOR1A allele effect is not found in the French population }}
This area was generated with Dilib version V0.6.23. |