Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jean-Baptiste Rivière"'
Autor:
Jean-Baptiste Rivière, Joël Lafond-Lapalme, Myriam Srour, Guy A. Rouleau, Andrea Accogli, Judith St-Onge, Alexandre D. Laporte, Nassima Addour-Boudrahem
Publikováno v:
Journal of Child Neurology. 35:106-110
The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinoc
Autor:
Joshi Stephen, Alexander G. Bassuk, Hatem El-Shanti, Yasser Al-Sarraj, Christel Thauvin-Robinet, May Christine V. Malicdan, Judith St-Onge, William P. Bone, James C. Mullikin, Ariane Soldatos, Yannis Dufford, Jean Baptiste Rivière, Tawfeg Ben-Omran, Alice Masurel-Paulet, Julien Thevenon, Jamil Al-Alami, Allison Cox, Hala Boulos, Marios Kambouris, William A. Gahl, Corrine Chantegret, Nisc Comparative Sequencing Program, Laurence Faivre
Publikováno v:
Annals of Clinical and Translational Neurology. 4:26-35
Objectives Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the ot
Autor:
Carissa Adams, Judith St-Onge, William H. Roden, Sonya A. Gunter, Susan L. Christian, Jay Shendure, Joseph B. Hiatt, Gisele E. Ishak, Ghayda Mirzaa, William B. Dobyns, Brian J. O'Roak, Robert F. Hevner, Jean Baptiste Rivière, Laura A. Jansen, Sarah Collins, Jeffrey G. Ojemann
Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3c0170448360edfc031253321d0724
https://europepmc.org/articles/PMC4614119/
https://europepmc.org/articles/PMC4614119/
Autor:
Vazken M. Der Kaloustian, Melanie Benard, Zuhayr Shbaklo, Jean-Baptiste Rivière, Ronald G. Lafrenière, Guy A. Rouleau, Dominique J. Verlaan, Masoud Shekarabi
Publikováno v:
Annals of Neurology. 56:572-575
Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves. Recently, a novel gene
Autor:
Jean-Baptiste Rivière, Alex Desautels, Judith St-Onge, Pascale Thibodeau, Anastasia Levchenko, Jacques-Yves Montplaisir, Gustavo Turecki, Marie-Pierre Dubé, Dominique J. Verlaan, Lan Xiong, Guy A. Rouleau
Publikováno v:
Annals of Neurology. 55:887-891
A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance of this locus in the French Canadian population. Markers spanning t
Autor:
Wilson Marques, Adriana Borges Genari, Nicolas Dupré, Antonio Carlos dos Santos, Jean-Baptiste Rivière, Charles Marques Lourenço, Amilton Antunes Barreira, Guy A. Rouleau, Vanessa Daccach Marques
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial dip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf9bcf963a56c3dd3fc9ca3e3081e0e
Autor:
Jean-Baptiste, Rivière, Judith, St-Onge, Claudia, Gaspar, Sabrina, Diab, Yves, Dion, Paul, Lespérance, Geneviève, Tellier, François, Richer, Sylvain, Chouinard, Marie-Pierre, Dubé, Guy A, Rouleau, Mijouk, Vézina
Publikováno v:
Scopus-Elsevier
Autor:
Jean-Baptiste, Rivière, Lan, Xiong, Anastasia, Levchenko, Judith, St-Onge, Claudia, Gaspar, Yves, Dion, Paul, Lespérance, Geneviève, Tellier, François, Richer, Sylvain, Chouinard, Guy A, Rouleau, Mijouk, Vézina
Publikováno v:
Archives of neurology. 66(10)
To test the association between Tourette syndrome (TS) and genetic variants in genomic loci MEIS1, MAP2K5/LBXCOR1, and BTBD9, for which genome-wide association studies in restless legs syndrome and periodic limb movements during sleep revealed common
Autor:
Edor, Kabashi, Hussein, Daoud, Jean-Baptiste, Rivière, Paul N, Valdmanis, Paul N, Valdamanis, Patrick, Bourgouin, Pierre, Provencher, Emmanuelle, Pourcher, Patrick, Dion, Nicolas, Dupré, Guy A, Rouleau
Publikováno v:
Archives of Neurology. 66
Autor:
Michèl A.A.P. Willemsen, Mustafa Tekin, Nicolas Dupré, Masoud Shekarabi, Jean-Baptiste Rivière, Guy A. Rouleau, Frédéric Charron, Jürgen Horst, Gülhis Deda, M. M. Lippert, Adèle Salin-Cantegrel, Claudia Gaspar, Liliane Karemera, A. Krause, Jean-Yves Lapointe, R. Jarrar
Publikováno v:
Neurology, 69, 13, pp. 1350-5
Neurology, 69, 1350-5
Neurology, 69, 1350-5
Background: Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive autosomal recessive polyneuropathy. Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as res