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Results 1 to 25 of 105

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Letter to the editors: comment on Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican familiesSHEKARABI, Masoud; DION, Patrick A; ROULEAU, Guy A et al.Journal of neurology. 2012, Vol 259, Num 3, pp 565-566, issn 0340-5354, 2 p.Article

Genetics of motor neuron disorders: new insights into pathogenic mechanismsDION, Patrick A; DAOUD, Hussein; ROULEAU, Guy A et al.Nature reviews. Genetics (Print). 2009, Vol 10, Num 11, pp 769-782, issn 1471-0056, 14 p.Article

Genetics of familial amyotrophic lateral sclerosisVALDMANIS, Paul N; ROULEAU, Guy A.Neurology. 2008, Vol 70, Num 2, pp 144-152, issn 0028-3878, 9 p.Article

Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedemaQING LING DUAN; BINKLEY, Karen; ROULEAU, Guy A et al.Journal of allergy and clinical immunology. 2009, Vol 123, Num 4, pp 906-910, issn 0091-6749, 5 p.Article

Familial amyotrophic lateral sclerosisHAND, Collette K; ROULEAU, Guy A.Muscle & nerve. 2002, Vol 25, Num 2, pp 135-159, issn 0148-639XArticle

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian populationDUPRE, Nicolas; BOUCHARD, Jean-Pierre; BRAIS, Bernard et al.Canadian journal of neurological sciences. 2006, Vol 33, Num 2, pp 149-157, issn 0317-1671, 9 p.Article

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformationVERLAAN, Dominique J; SIEGEL, Adrian M; ROULEAU, Guy A et al.American journal of human genetics. 2002, Vol 70, Num 6, pp 1564-1567, issn 0002-9297Article

Comparative genomic analysis of genes encoding translation elongation factor 1Bα in human and mouse shows EEF1B1 to be a recent retrotransposition eventCHAMBERS, Doreen M; ROULEAU, Guy A; ABBOTT, Catherine M et al.Genomics (San Diego, Calif.). 2001, Vol 77, Num 3, pp 145-148, issn 0888-7543Article

TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patientsLEVCHENKO, Anastasia; ROBITAILLE, Yves; STRONG, Michael J et al.Canadian journal of neurological sciences. 2004, Vol 31, Num 3, pp 363-367, issn 0317-1671, 5 p.Article

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophyABU-BAKER, Aida; MESSAED, Christiane; LAGANIERE, Janet et al.Human molecular genetics (Print). 2003, Vol 12, Num 20, pp 2609-2623, issn 0964-6906, 15 p.Article

Epigenetic Regulation of Synapsin Genes in Mood DisordersCRUCEANU, Cristiana; FREEMANTLE, Erika; ALDA, Martin et al.Neuropsychopharmacology (New York, NY). 2013, Vol 38, Num 1, pp 239-241, issn 0893-133X, 3 p.Article

Cellular expression of the K+―Cl cotransporter KCC3 in the central nervous system of mouseSHEKARABI, Masoud; SALIN-CANTEGREL, Adèle; LAGANIERE, Janet et al.Brain research. 2011, Vol 1374, pp 15-26, issn 0006-8993, 12 p.Article

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophySHANMUGAM, Vijayalakshmi; DION, Patrick; ROCHEFORT, Daniel et al.Annals of neurology. 2000, Vol 48, Num 5, pp 798-802, issn 0364-5134Article

Autosomal dominant primary lateral sclerosisDUPRE, Nicolas; VALDMANIS, Paul N; BOUCHARD, Jean-Pierre et al.Neurology. 2007, Vol 68, Num 14, pp 1156-1157, issn 0028-3878, 2 p.Article

A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-CanadiansNIKPOOR, Borzoo; TURECKI, Gustavo; FOURNIER, Caroline et al.The American heart journal. 2001, Vol 142, Num 2, pp 336-339, issn 0002-8703Article

Identification of a major susceptibility locus for restless legs syndrome on chromosome 12qDESAUTELS, Alex; TURECKI, Gustavo; MONTPLAISIR, Jacques et al.American journal of human genetics. 2001, Vol 69, Num 6, pp 1266-1270, issn 0002-9297Article

Une nouvelle forme d'ataxie récessive causée par des mutations du gène SYNE-1 = Mutations in SYNE-I lead to a newly discovered form of autosomal recessive cerebellar ataxiaDUPRE, Nicolas; BOUCHARD, Jean-Pierre; GROS-LOUIS, Francois et al.MS. Médecine sciences. 2007, Vol 23, Num 3, pp 261-262, issn 0767-0974, 2 p.Article

Spectrum of SPG4 mutations in a large collection of North American families with Hereditary spastic paraplegiaMEIJER, Inge A; HAND, Collette K; COSSETTE, P et al.Archives of neurology (Chicago). 2002, Vol 59, Num 2, pp 281-286, issn 0003-9942Article

C9orf72 repeat expansions are a rare genetic cause of parkinsonismLESAGE, Suzanne; LE BER, Isabelle; ROULEAU, Guy A et al.Brain. 2013, Vol 136, pp 385-391, issn 0006-8950, 7 p., 2Article

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian PopulationSROUR, Myriam; SCHWARTZENTRUBER, Jeremy; BOYCOTT, Kym M et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 693-700, issn 0002-9297, 8 p.Article

A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaVALDMANIS, Paul N; DUPRE, Nicolas; SAMUELS, Mark E et al.Brain. 2011, Vol 134, pp 602-607, issn 0006-8950, 6 p., 2Article

Common variants in P2RY11 are associated with narcolepsyKORNUM, Birgitte R; KAWASHIMA, Minae; KASSACK, Matthias U et al.Nature genetics. 2011, Vol 43, Num 1, pp 66-71, issn 1061-4036, 6 p.Article

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaGAUTHIER, Julie; SIDDIQUI, Tabrez J; FATHALLI, Ferid et al.Human genetics. 2011, Vol 130, Num 4, pp 563-573, issn 0340-6717, 11 p.Article

De Novo Truncating Mutation in Kinesin 17 Associated with SchizophreniaTARABEUX, Julien; CHAMPAGNE, Nathalie; MILLET, Bruno et al.Biological psychiatry (1969). 2010, Vol 68, Num 7, pp 649-656, issn 0006-3223, 8 p.Article

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1CATOIRE, Hélène; PASCA, Matthieu Y; ABU-BAKER, Aida et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2108-2117, issn 0964-6906, 10 p.Article

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