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Claudia Gaspar

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Portugal

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Shawn J Stochmanski; Martine Therrien; Don J Van Meyel; Kishanda Vyboh; Graziella Di Cristo; Patrick Dion; Claudia Gaspar; Rebecca Gaudet; Liliane Karemera; Josée Laganière; Sandra Laurent; Daniel Rochefort; Guy A Rouleau
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Adèle Salin-Cantegrel; Masoud Shekarabi; Sandra Dacal; Patrick A Dion; Claudia Gaspar; Rébecca Gaudet; Janet Laganière; Jean-Yves Lapointe; Gaëtan Lesca; Sarah Rasheed; Jean-Baptiste Rivière; Daniel Rochefort; Guy A Rouleau
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Lan Xiong; Jacques Montplaisir; Alex Desautels; Amina Barhdadi; Gustavo Turecki; Anastasia Levchenko; Pascale Thibodeau; Marie-Pierre Dubé; Claudia Gaspar; Guy Rouleau
Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.

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All Publications

2012: Shawn J Stochmanski; Martine Therrien; Don J Van Meyel; Kishanda Vyboh; Graziella Di Cristo; Patrick Dion; Claudia Gaspar; Rebecca Gaudet; Liliane Karemera; Josée Laganière; Sandra Laurent; Daniel Rochefort; Guy A Rouleau
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Human molecular genetics 2012;21(10):2211-8.
2011: Adèle Salin-Cantegrel; Masoud Shekarabi; Sandra Dacal; Patrick A Dion; Claudia Gaspar; Rébecca Gaudet; Janet Laganière; Jean-Yves Lapointe; Gaëtan Lesca; Sarah Rasheed; Jean-Baptiste Rivière; Daniel Rochefort; Guy A Rouleau
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
The Journal of biological chemistry 2011;286(32):28456-65.
2010: Lan Xiong; Jacques Montplaisir; Alex Desautels; Amina Barhdadi; Gustavo Turecki; Anastasia Levchenko; Pascale Thibodeau; Marie-Pierre Dubé; Claudia Gaspar; Guy Rouleau
Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.
Archives of neurology 2010;67(5):617-22.
2008: Adèle Salin-Cantegrel; Masoud Shekarabi; Sébastien Holbert; Patrick Dion; Daniel Rochefort; Janet Laganière; Sandra Dacal; Pascale Hince; Liliane Karemera; Claudia Gaspar; Jean-Yves Lapointe; Guy Rouleau
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
Human molecular genetics 2008;17(17):2703-11.
2008: Lan Xiong; Anastasia Levchenko; Jacques Montplaisir; Jean-Baptiste Rivière; Pascale Thibodeau; Judith St-Onge; Claudia Gaspar; Alex Desautels; Paul Lespérance; Sylvain Chouinard; Gustavo Turecki; Guy Rouleau
Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians.
Sleep medicine 2008;9(3):273-82.
2007: Lan Xiong; Patrick Dion; Jacques Montplaisir; Anastasia Levchenko; Pascale Thibodeau; Liliane Karemera; Jean-Baptiste Rivière; Judith St-Onge; Claudia Gaspar; Marie-Pierre Dubé; Alex Desautels; Gustavo Turecki; Guy Rouleau
Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(7):911-7.
2007: Sandra Martins; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; bing-wen soong; Leal Loureiro; Alexandra Dürr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy Rouleau; Paula Coutinho; António Amorim; Jorge Sequeiros
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Archives of neurology 2007;64(10):1502-8.
2007: A Salin-Cantegrel; Jean-Baptiste Rivière; Nicolas Dupré; François M Charron; Masoud Shekarabi; L Karéméra; Claudia Gaspar; Jürgen Horst; Mustafa Tekin; G Deda; A Krause; M M Lippert; Michèl A A P Willemsen; R Jarrar; Jean-Yves Lapointe; Guy Rouleau
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Neurology 2007;69(13):1350-5.
2007: Lan Xiong; K Jang; Jacques Montplaisir; Anastasia Levchenko; Pascale Thibodeau; Claudia Gaspar; Gustavo Turecki; Guy Rouleau
Canadian restless legs syndrome twin study.
Neurology 2007;68(19):1631-3.
2006: François Gros-Louis; Claudia Gaspar; Guy Rouleau
Genetics of familial and sporadic amyotrophic lateral sclerosis.
Biochimica et biophysica acta 2006;1762(11-12):956-72.
2005: André Toulouse; Faith Au-Yeung; Claudia Gaspar; Julie Roussel; Patrick Dion; Guy Rouleau
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
Human molecular genetics 2005;14(18):2649-60.
2005: Patrick Dion; Vijayalakshmi Shanmugam; Claudia Gaspar; Christiane Messaed; Inge A Meijer; André Toulouse; janet laganiere; Julie Roussel; Daniel Rochefort; Simon Laganiere; Carol Allen; George Karpati; Jean-Pierre Bouchard; Bernard Brais; Guy Rouleau
Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.
Neurobiology of disease 2005;18(3):528-36.
2003: Aida Abu-Baker; Christiane Messaed; janet laganiere; Claudia Gaspar; Bernard Brais; Guy Rouleau
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.
Human molecular genetics 2003;12(20):2609-23.
2001: Patrícia Maciel; Maria do Carmo Costa; Anabela Ferro; M Rousseau; C S Santos; Claudia Gaspar; José Barros; Guy Rouleau; Paula Coutinho; Jorge Sequeiros
Improvement in the molecular diagnosis of Machado-Joseph disease.
Archives of neurology 2001;58(11):1821-7.
2001: Claudia Gaspar; Iscia Lopes-Cendes; S Hayes; Jun Goto; K Arvidsson; Adelaide Dias; Isabel Silveira; Patrícia Maciel; Paula Coutinho; M Lima; Y X Zhou; bing-wen soong; Masahiko Watanabe; Paola Giunti; Giovanni Stevanin; Olaf Riess; H Sasaki; M Hsieh; G A Nicholson; E Brunt; J J Higgins; M Lauritzen; Lisbeth Tranebjaerg; V Volpini; Nicholas W Wood; Laura P W Ranum; Shoji Tsuji; Alexis Brice; Jorge Sequeiros; Guy Rouleau
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
American journal of human genetics 2001;68(2):523-8.
2000: Claudia Gaspar; M Jannatipour; Patrick Dion; Josée Laganière; Jorge Sequeiros; Bernard Brais; Guy Rouleau
CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation.
Human molecular genetics 2000;9(13):1957-66.
2000: S Hayes; Gustavo Turecki; Kateri Brisebois; Iscia Lopes-Cendes; Claudia Gaspar; Olaf Riess; Laura P W Ranum; Stef pulst; Guy Rouleau
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
Human molecular genetics 2000;9(12):1753-8.
1999: Patrícia Maciel; Claudia Gaspar; Laura Guimarães; Jun Goto; Iscia Lopes-Cendes; S Hayes; K Arvidsson; Adelaide Dias; Jorge Sequeiros; Alda Sousa; Guy Rouleau
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
European journal of human genetics : EJHG 1999;7(2):147-56.
1998: Isabel Silveira; Paula Coutinho; Patrícia Maciel; Claudia Gaspar; S Hayes; Adelaide Dias; João Guimarães; Leal Loureiro; Jorge Sequeiros; Guy Rouleau
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
American journal of medical genetics 1998;81(2):134-8.
1997: Jun Goto; Masahiko Watanabe; Y Ichikawa; S B Yee; N Ihara; K Endo; S Igarashi; Y Takiyama; Claudia Gaspar; Patrícia Maciel; Shoji Tsuji; Guy Rouleau; Ichiro Kanazawa
Machado-Joseph disease gene products carrying different carboxyl termini.
Neuroscience research 1997;28(4):373-7.
1996: Iscia Lopes-Cendes; Isabel Silveira; Patrícia Maciel; Claudia Gaspar; J Radvany; D Chitayat; R Babul; J Stewart; M Dolliver; Yvonne Robitaille; Guy Rouleau; Jorge Sequeiros
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.
Archives of neurology 1996;53(11):1168-74.
1996: Claudia Gaspar; Iscia Lopes-Cendes; Anita L DeStefano; Patrícia Maciel; Isabel Silveira; Paula Coutinho; P MacLeod; Jorge Sequeiros; Lindsay A Farrer; Guy Rouleau
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
Human genetics 1996;98(5):620-4.
1996: Iscia Lopes-Cendes; Patrícia Maciel; Stephen J Kish; Claudia Gaspar; Yvonne Robitaille; H B Clark; A H Koeppen; M Nance; L Schut; Isabel Silveira; Paula Coutinho; Jorge Sequeiros; Guy Rouleau
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.
Annals of neurology 1996;40(2):199-206.
1996: Anita L DeStefano; L Adrienne Cupples; Patrícia Maciel; Claudia Gaspar; J Radvany; D M Dawson; L Sudarsky; L Corwin; Paula Coutinho; P MacLeod
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.
American journal of human genetics 1996;59(1):119-27.
1996: Isabel Silveira; Iscia Lopes-Cendes; Stephen J Kish; Patrícia Maciel; Claudia Gaspar; Paula Coutinho; MI Botez; H Teive; Walter Oleschko Arruda; C E Steiner; W Pinto-Júnior; J A Maciel; S Jerin; GEORGE SACK; Eva Andermann; L Sudarsky; Roger Rosenberg; P MacLeod; D Chitayat; R Babul; Jorge Sequeiros; Guy Rouleau
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
Neurology 1996;46(1):214-8.
1995: Anita L DeStefano; Lindsay A Farrer; Patrícia Maciel; Claudia Gaspar; Guy Rouleau; Paula Coutinho; Jorge Sequeiros
Gender equality in Machado-Joseph disease.
Nature genetics 1995;11(2):118-9.
1995: Patrícia Maciel; Claudia Gaspar; Anita L DeStefano; Isabel Silveira; Paula Coutinho; J Radvany; D M Dawson; L Sudarsky; João Guimarães; J E Loureiro
Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
American journal of human genetics 1995;57(1):54-61.
1994: Jorge Sequeiros; Isabel Silveira; Patrícia Maciel; Paula Coutinho; A Manaia; Claudia Gaspar; Philippe Burlet; L Loureiro; João Guimarães; H Tanaka
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.
Genomics 1994;21(3):645-8.