Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Cynthia V. Bourassa"'
Autor:
Calwing Liao, Veikko Vuokila, Hélène Catoire, Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Patrick A. Dion, Inge A. Meijer, Guy A. Rouleau
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-6 (2022)
Calwing Liao and Veikko Vuokila et al. report a transcriptome-wide association study (TWAS) of Tourette’s Syndrome. They find increased expression of FLT3 in the dorsolateral prefrontal cortex and the lymphoblastoid cell lines in patients with Tour
Externí odkaz:
https://doaj.org/article/c55de6f7799640e488bf9c601ff989c6
Autor:
Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansio
Externí odkaz:
https://doaj.org/article/3196f93a42ed4362ba5f64f66a72f8a3
Autor:
Isabelle Peretz, Jay Ross, Cynthia V. Bourassa, Louis‐Philippe Lemieux Perreault, Patrick A. Dion, Michael W. Weiss, Mihaela Felezeu, Guy A. Rouleau, Marie‐Pierre Dubé
Publikováno v:
Annals of the New York Academy of Sciences. 1517:279-285
Congenital amusia is a lifelong disorder that compromises the normal development of musical abilities in 1.5-4% of the general population. There is a substantial genetic contribution to congenital amusia, and it bears similarities to neurodevelopment
Autor:
Paul N. Valdmanis, Mark A. Kay, Cynthia V. Bourassa, Kathryn Gudsnuk, Meredith M. Course, Nicolas Dupré, Guy A. Rouleau, Suman Jayadev, Dan Spiegelman, Chang En Yu, Evan E. Eichler, Samuel N. Smukowski, Arvis Sulovari, Debby W. Tsuang, Jay P. Ross, Nitin Desai, Aaron D. Gitler, Julien Couthouis, Kosuke Winston, Patrick A. Dion
Publikováno v:
Am J Hum Genet
Tandem repeats are proposed to contribute to human-specific traits, and more than 40 tandem repeat expansions are known to cause neurological disease. Here, we characterize a human-specific 69 bp variable number tandem repeat (VNTR) in the last intro
Autor:
Patrick A. Dion, Marcondes C. França, Sandra Martins, Laura Bannach Jardim, Fulya Akçimen, Mafalda Raposo, Cynthia V. Bourassa, Hélène Catoire, Guy A. Rouleau, Olaf Riess, Iscia Lopes-Cendes, Jorge Sequeiros, Maria Luiza Saraiva-Pereira, Garth A. Nicholson, João Vasconcelos, Calwing Liao, Manuela Lima
Publikováno v:
Aging (Albany NY)
Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the di
Autor:
Calwing Liao, Veikko Vuokila, Hélène Catoire, Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Patrick A. Dion, Inge A. Meijer, Guy A. Rouleau
Publikováno v:
Communications biology. 5(1)
Tourette’s Syndrome (TS) is a neurodevelopmental disorder that is characterized by motor and phonic tics. A recent TS genome-wide association study (GWAS) identified a genome-wide significant locus. However, determining the biological mechanism of
Autor:
Dan Spiegelman, Pingxing Xie, Martine Therrien, Amirthagowri Ambalavanan, Simon Girard, Boris Chaumette, Alexandre Dionne-Laporte, Ridha Joober, Qin He, Cynthia V. Bourassa, Judith L. Rapoport, Lan Xiong, Sirui Zhou, Guy A. Rouleau, Patrick A. Dion, Daniel Rochefort
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 180:335-340
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia, defined as having an onset before the age of 13. The male COS cases have a slightly younger age of onset than female cases. They also present with a higher rate of comorb
Autor:
Alex Rajput, Sandra B. Laurent, Claire S. Leblond, Gabrielle Houle, Carles Vilariño-Güell, Cynthia V. Bourassa, Guy A. Rouleau, Jean-François Schmouth, Amirthagowri Ambalavanan, Sylvain Chouinard, Dan Spiegelman, Patrick A. Dion, Michel Panisset, Nicolas Dupré
Publikováno v:
Molecular Neurobiology. 56:4317-4321
Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported. All three structures of the olivo
Autor:
Olaf Riess, Laura Bannach Jardim, Manuela Lima, Mafalda Raposo, Cynthia V. Bourassa, Marcondes C. França, Jorge Sequeiros, João Vasconcelos, Sandra Martins, Calwing Liao, Patrick A. Dion, Hélène Catoire, Guy A. Rouleau, Maria Luiza Saraiva-Pereira, Fulya Akçimen, Garth A. Nicholson, Iscia Lopes-Cendes
Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a8dc3a39eaae52a3b51592bcc298df
https://doi.org/10.1101/834754
https://doi.org/10.1101/834754
Autor:
Jacques Montplaisir, Christelle Charley Monaca, Owen A. Ross, Michele T.M. Hu, Dongsheng Fan, Edward A. Fon, Peter Young, Isabelle Arnulf, Yves Dauvilliers, Elena Antelmi, Giuseppe Plazzi, Jiao Li, Patrick A. Dion, Sandra B. Laurent, Claire S. Leblond, Jennifer A. Ruskey, Tanis J. Ferman, Ambra Stefani, Jay P. Ross, Alex Desautels, Bradley F. Boeve, Valérie Cochen De Cock, Anna Heidbreder, Dan Spiegelman, Cynthia V. Bourassa, Catherine Labbé, Sirui Zhou, Jean-François Gagnon, Birgit Högl, Amirthagowri Ambalavanan, Ziv Gan-Or, Guy A. Rouleau, Nicolas Dupré, Luigi Ferini-Strambi, Michel Boivin, Ronald B. Postuma
Publikováno v:
Movement Disorders. 33:1016-1020
BACKGROUND: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear. OBJECTIVE: To study the role of MAPT variants in rapid eye movement sleep behavior disorder. METHODS: Two cohorts we