Sandra Laurent
Université de Montréal
12 Papers
32 Citations
Sandra Laurent is an academic researcher from Université de Montréal. The author has contributed to research in topics: Spinocerebellar ataxia & X chromosome. The author has an hindex of 7, co-authored 8 publications. Previous affiliations of Sandra Laurent include Centre Hospitalier Universitaire Sainte-Justine.
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Papers
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
François Gros-Louis,Nicolas Dupré,Nicolas Dupré,Patrick A. Dion,Michael A. Fox,Sandra Laurent,Steve Verreault,Joshua R. Sanes,Jean-Pierre Bouchard,Guy A. Rouleau +9 more
TL;DR: It is reported that a newly discovered form of recessive ataxia is found in a French-Canadian cohort and it is shown that SYNE1 mutations are causative in all of the authors' kindreds, making SYne1 the first identified gene responsible for a recessively inherited pure cerebellar ataxias.
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CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
M. Chiara Manzini,M. Chiara Manzini,M. Chiara Manzini,Lan Xiong,Ranad Shaheen,Dimira E. Tambunan,Dimira E. Tambunan,Dimira E. Tambunan,Stefania Di Costanzo,Stefania Di Costanzo,Stefania Di Costanzo,Vanessa Mitisalis,Vanessa Mitisalis,Vanessa Mitisalis,David J. Tischfield,David J. Tischfield,David J. Tischfield,Antonella Cinquino,Antonella Cinquino,Antonella Cinquino,Mohammed Ghaziuddin,Mehtab Christian,Qin Jiang,Sandra Laurent,Zohair A. Nanjiani,Saima Rasheed,R. Sean Hill,R. Sean Hill,R. Sean Hill,Sofia B. Lizarraga,Sofia B. Lizarraga,Sofia B. Lizarraga,Danielle Gleason,Danielle Gleason,Danielle Gleason,Diya Sabbagh,Mustafa A. Salih,Fowzan S. Alkuraya,Christopher A. Walsh +38 more
TL;DR: Two autosomal-recessive “founder” mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including mild-to-severe ID, ASD, as well as seizures, are presented, suggesting shared developmental mechanisms.
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Characterization of a Novel SPG3A Deletion in a French-Canadian Family
Inge A. Meijer,Patrick A. Dion,Sandra Laurent,Nicolas Dupré,Nicolas Dupré,Bernard Brais,Annie Levert,Jacques Puymirat,Michel Sylvain,Peng-Peng Zhu,Cynthia Soderblom,Julia Stadler,Craig Blackstone,Guy A. Rouleau +13 more
TL;DR: In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in‐frame deletion, p.del436N, was identified and characterization showed that it affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlast in and spastin.
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Autism spectrum disorders associated with X chromosome markers in French-Canadian males
Julie Gauthier,Julie Gauthier,Ridha Joober,Marie-Pierre Dubé,Judith St-Onge,Anna Bonnel,Gariépy D,Sandra Laurent,Najafee R,Lacasse H,St-Charles L,Eric Fombonne,Laurent Mottron,Guy A. Rouleau +13 more
TL;DR: Results provide support for the existence of a locus on the X chromosome that predisposes males from French-Canadian origin to autism spectrum disorders.
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Clinical stringency greatly improves mutation detection in rett syndrome
Julie Gauthier,Giovana Valadares de Amorim,Gevork N. Mnatzakanian,Carol J Saunders,John B. Vincent,Sylvie Toupin,David Kauffman,Judith St-Onge,Sandra Laurent,Patrick MacLeod,Berge A. Minassian,Guy A. Rouleau +11 more
TL;DR: The results suggest that clinical diagnostic procedures significantly influence the rate of mutation detection in RTT, and more generally emphasize the importance of diagnostic tools in the assessment of neurobehavioral syndromes.