P
Patrick A. Dion
Researcher at Montreal Neurological Institute and Hospital
Publications - 225
Citations - 11997
Patrick A. Dion is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Genome-wide association study. The author has an hindex of 49, co-authored 205 publications receiving 10372 citations. Previous affiliations of Patrick A. Dion include McGill University & Université de Montréal.
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Journal ArticleDOI
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.
Fulya Akçimen,Fulya Akçimen,Jay P. Ross,Jay P. Ross,Cynthia V. Bourassa,Calwing Liao,Calwing Liao,Daniel Rochefort,Maria Thereza Drumond Gama,Marie-Josée Dicaire,Orlando Graziani Povoas Barsottini,Bernard Brais,Bernard Brais,José Luiz Pedroso,Patrick A. Dion,Patrick A. Dion,Guy A. Rouleau,Guy A. Rouleau +17 more
TL;DR: Assessing the prevalence and nature of RFC1 repeat expansions in three cohorts of adult-onset ataxia cases and observing two new repeat conformations, AAGAG and AGAGG, which suggests the pentanucleotide expansion sequence has a dynamic nature suggests the pathogenic impact of biallelic genotypes that include the novel expanded conformations should nonetheless be examined.
Journal ArticleDOI
UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.
Hussein Daoud,Hamid Suhail,Anna Szuto,William Camu,François Salachas,Vincent Meininger,Jean-Pierre Bouchard,Nicolas Dupré,Patrick A. Dion,Guy A. Rouleau +9 more
TL;DR: In this article, the UBQLN2 gene was sequenced in 590 ALS patients of French and French-Canadian ancestry and two novel missense mutations (p.S155N and p.P189T) were identified in two individuals with sporadic ALS.
Journal ArticleDOI
Paternal age explains a major portion of De novo germline mutation rate variability in healthy individuals
Simon Girard,Cynthia V. Bourassa,Louis-Philippe Lemieux Perreault,Marc-André Legault,Amina Barhdadi,Amirthagowri Ambalavanan,Mara Brendgen,Frank Vitaro,Anne Noreau,Ginette Dionne,Richard E. Tremblay,Patrick A. Dion,Michel Boivin,Marie-Pierre Dubé,Guy A. Rouleau +14 more
TL;DR: There is a strong positive correlation between paternal age and germline DNM in healthy subjects and it is observed that germline CNVs do not follow the same trend, suggesting a different mechanism.
Journal ArticleDOI
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
Cynthia V. Bourassa,Inge A. Meijer,Nancy D. Merner,Kanwal K. Grewal,Mark Stefanelli,Kathleen A. Hodgkinson,Elizabeth Ives,William Pryse-Phillips,Mandar Jog,Kym M. Boycott,David Grimes,Sharan Goobie,Richard Leckey,Patrick A. Dion,Guy A. Rouleau +14 more
TL;DR: This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exocytosis, as the responsible gene for dominantly inherited hereditary spastic ataxia in three large Newfoundland families.
Journal ArticleDOI
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models
Shawn J. Stochmanski,Martine Therrien,Janet Laganière,Daniel Rochefort,Sandra Laurent,Liliane Karemera,Rébecca Gaudet,Kishanda Vyboh,Don J. Van Meyel,Graziella Di Cristo,Patrick A. Dion,Claudia Gaspar,Guy A. Rouleau +12 more
TL;DR: The observations indicate that expanded polyglutamine tracts in Drosophila and mouse neurons are insufficient for the development of a phenotype, and it is proposed that -1 ribosomal frameshifting contributes to the toxicity associated with (exp)CAG repeats.