Bernard Brais mainly focuses on Genetics, Oculopharyngeal muscular dystrophy, Mutation, Gene and Pathology. His study in Locus, Missense mutation, Phenotype, Hereditary sensory and autonomic neuropathy and Exon is carried out as part of his Genetics studies. His work in the fields of Missense mutation, such as Nonsense mutation, intersects with other areas such as Skeletal disorder.
His Oculopharyngeal muscular dystrophy research also covers Ptosis and Muscular dystrophy studies. His Mutation research is multidisciplinary, relying on both Hypogonadotropic hypogonadism and Mitochondrion. His research investigates the link between Gene and topics such as Molecular biology that cross with problems in Protein subunit, RNA and Leukodystrophy.
His primary areas of investigation include Genetics, Oculopharyngeal muscular dystrophy, Ataxia, Gene and Pathology. His study in Genetics focuses on Missense mutation, Locus, Founder effect, Haplotype and Spinocerebellar ataxia. Biochemistry and Nuclear protein is closely connected to Cell biology in his research, which is encompassed under the umbrella topic of Oculopharyngeal muscular dystrophy.
His research in Ataxia intersects with topics in Exome sequencing, Pediatrics and Cohort. His Gene research includes elements of Molecular biology and Leukodystrophy. His work on Disease as part of general Pathology study is frequently connected to Congenital myopathy, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them.
The scientist’s investigation covers issues in Ataxia, Pediatrics, Gene, Missense mutation and Physical medicine and rehabilitation. His Ataxia research includes themes of Longitudinal study, Neurofilament, Wild type, Prospective cohort study and Cohort. His study focuses on the intersection of Pediatrics and fields such as Natural history with connections in the field of Disease, Ptosis, Dysphagia, Clinical research and Amyotrophic lateral sclerosis.
The Oculopharyngeal muscular dystrophy research Bernard Brais does as part of his general Ptosis study is frequently linked to other disciplines of science, such as Respiratory disease and Proximal weakness, therefore creating a link between diverse domains of science. His Gene study improves the overall literature in Genetics. Bernard Brais interconnects Skeletal muscle and Myopathy in the investigation of issues within Missense mutation.
His scientific interests lie mostly in Ataxia, Gene, Cell biology, Mutation and RNA polymerase III. He has included themes like Neurofilament, Balance, Hereditary spastic paraplegia, Pediatrics and Cohort in his Ataxia study. Gene is a subfield of Genetics that Bernard Brais tackles.
His Cell biology research incorporates themes from RNA, Transcriptome and DNA. The study incorporates disciplines such as Phenotype and Purkinje cell in addition to Mutation. His study in Phenotype is interdisciplinary in nature, drawing from both Molecular biology, Biogenesis, Mutant and Leukodystrophy.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Brais B;Bouchard Jp;Xie Yg;Rochefort Dl.
Nature Genetics (1998)
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
Ronald G Lafrenière;M Zameel Cader;M Zameel Cader;Jean-François Poulin;Isabelle Andres-Enguix.
Nature Medicine (2010)
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer;T Hartley;D A Dyment;C L Beaulieu.
Clinical Genetics (2016)
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
Angelo Calado;Fernando M.S. Tomé;Bernard Brais;G.A. Rouleau.
Human Molecular Genetics (2000)
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
Véronique Bolduc;Gareth Marlow;Kym M. Boycott;Khalil Saleki.
American Journal of Human Genetics (2010)
Oculopharyngeal muscular dystrophy.
Bernard Brais;Guy A. Rouleau;Jean-Pierre Bouchard;M. Fardeau.
Seminars in Neurology (1999)
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard;Geneviève Bernard;Eliane Chouery;Maria Lisa Putorti;Martine Tétreault.
American Journal of Human Genetics (2011)
Population history and its impact on medical genetics in Quebec.
Laberge Am;Michaud J;Richter A;Lemyre E.
Clinical Genetics (2005)
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Vafa Bayat;Isabelle Thiffault;Isabelle Thiffault;Manish Jaiswal;Martine Tétreault.
PLOS Biology (2012)
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13
Bernard Brais;Ya-Gang Xie;Marc Sanson;Kenneth Morgan.
Human Molecular Genetics (1995)
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