PubRank

B Brais

Author PubWeight™ 22.96‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Population history and its impact on medical genetics in Quebec. Clin Genet 2005 1.85
2 Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000 1.70
3 [Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]. Neurologia 2004 1.42
4 Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum Mol Genet 2001 1.19
5 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 2006 1.10
6 The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet 1996 1.09
7 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology 2007 1.02
8 Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am J Hum Genet 1998 1.00
9 Recent studies on oculopharyngeal muscular dystrophy in Québec. Neuromuscul Disord 1997 0.98
10 CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Hum Mol Genet 2000 0.97
11 Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005 0.94
12 PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann Neurol 2000 0.94
13 A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006 0.87
14 Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway. Cell Death Dis 2013 0.87
15 Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 2009 0.86
16 Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci 2013 0.84
17 Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol 1999 0.84
18 Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology 2000 0.80
19 Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Neuromuscul Disord 2007 0.78
20 Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. Can J Neurol Sci 2011 0.77
21 Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis. Neurology 1999 0.77
22 A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain 2006 0.77
23 (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. Neuromuscul Disord 2005 0.75
24 Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13. Genomics 1998 0.75
25 A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscul Disord 1997 0.75
26 Osler Society of McGill University: Report for the Academic Year 1982-83. Osler Libr Newsl 1983 0.75
27 Osler Society of McGill University: report for the academic year 1983-84. Osler Libr Newsl 1984 0.75
28 [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]. Rev Neurol (Paris) 2008 0.75