S
Sandra B. Laurent
Researcher at McGill University
Publications - 33
Citations - 842
Sandra B. Laurent is an academic researcher from McGill University. The author has contributed to research in topics: Compound heterozygosity & Gene. The author has an hindex of 14, co-authored 33 publications receiving 659 citations. Previous affiliations of Sandra B. Laurent include Montreal Neurological Institute and Hospital.
Papers
More filters
Journal ArticleDOI
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.
Julie Gauthier,Anna Bonnel,Judith St-Onge,Liliane Karemera,Sandra B. Laurent,Laurent Mottron,Eric Fombonne,Ridha Joober,Guy A. Rouleau +8 more
TL;DR: Results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations inNL GN3 andNLGN4 occur in autism.
Journal ArticleDOI
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
Ziv Gan-Or,Ziv Gan-Or,Naima Bouslam,Nazha Birouk,Alexandra Lissouba,Daniel B. Chambers,Julie Vérièpe,Alaura Androschuk,Sandra B. Laurent,Sandra B. Laurent,Daniel Rochefort,Daniel Rochefort,Dan Spiegelman,Dan Spiegelman,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Anna Szuto,Meijiang Liao,Denise A. Figlewicz,Ahmed Bouhouche,Ali Benomar,Mohamed Yahyaoui,Reda Ouazzani,Grace Yoon,Nicolas Dupré,Oksana Suchowersky,Francois V. Bolduc,J. Alex Parker,Patrick A. Dion,Patrick A. Dion,Pierre Drapeau,Guy A. Rouleau,Guy A. Rouleau,Bouchra Ouled Amar Bencheikh,Bouchra Ouled Amar Bencheikh +34 more
TL;DR: Rare homozygous and compound-heterozygous nonsense, missense, frameshift, and splice-site mutations in CAPN1 were identified in all affected individuals, and sequencing in additional family members confirmed the segregation of these mutations with the disease (spastic paraplegia 76).
Journal ArticleDOI
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease
Roy N. Alcalay,Victoria Mallett,Benoît Vanderperre,Omid Tavassoly,Yves Dauvilliers,Richard Y.J. Wu,Richard Y.J. Wu,Jennifer A. Ruskey,Jennifer A. Ruskey,Claire S. Leblond,Claire S. Leblond,Amirthagowri Ambalavanan,Amirthagowri Ambalavanan,Sandra B. Laurent,Sandra B. Laurent,Dan Spiegelman,Dan Spiegelman,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Christopher Liong,Oren A. Levy,Stanley Fahn,Cheryl Waters,Sheng-Han Kuo,Wendy K. Chung,Blair Ford,Karen Marder,Un Jung Kang,Sharon Hassin-Baer,Sharon Hassin-Baer,Lior Greenbaum,Lior Greenbaum,Jean-François Trempe,Pavlina Wolf,Petra Oliva,Xiaokui Kate Zhang,Lorraine N. Clark,Mélanie Langlois,Patrick A. Dion,Patrick A. Dion,Edward A. Fon,Nicolas Dupré,Guy A. Rouleau,Guy A. Rouleau,Ziv Gan-Or,Ziv Gan-Or +45 more
TL;DR: The objective of this study was to further investigate the role of SMPD1 mutations in PD.
Journal ArticleDOI
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Lynne Krohn,Lynne Krohn,Tugba N. Ozturk,Benoît Vanderperre,Benoît Vanderperre,Bouchra Ouled Amar Bencheikh,Bouchra Ouled Amar Bencheikh,Jennifer A. Ruskey,Jennifer A. Ruskey,Sandra B. Laurent,Sandra B. Laurent,Dan Spiegelman,Dan Spiegelman,Ronald B. Postuma,Ronald B. Postuma,Isabelle Arnulf,Michele T.M. Hu,Yves Dauvilliers,Birgit Högl,Ambra Stefani,Christelle Charley Monaca,Giuseppe Plazzi,Elena Antelmi,Luigi Ferini-Strambi,Anna Heidbreder,Uladzislau Rudakou,Uladzislau Rudakou,Valérie Cochen De Cock,Peter Young,Pavlina Wolf,Petra Oliva,Xiaokui Kate Zhang,Lior Greenbaum,Lior Greenbaum,Christopher Liong,Jean-François Gagnon,Jean-François Gagnon,A. Desautels,A. Desautels,S. Hassin-Baer,S. Hassin-Baer,S. Hassin-Baer,Jacques Montplaisir,Jacques Montplaisir,Nicolas Dupré,Guy A. Rouleau,Guy A. Rouleau,Edward A. Fon,Edward A. Fon,Jean-François Trempe,Guillaume Lamoureux,Roy N. Alcalay,Ziv Gan-Or,Ziv Gan-Or +53 more
TL;DR: The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome‐wide association studies of Parkinson disease (PD) and specific disease‐associated variants in this locus are identified and their potential implications are identified.
Journal ArticleDOI
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
Claire S. Leblond,Claire S. Leblond,Ziv Gan-Or,Ziv Gan-Or,Dan Spiegelman,Dan Spiegelman,Sandra B. Laurent,Sandra B. Laurent,Anna Szuto,Anna Szuto,Alan Hodgkinson,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Pierre Provencher,Mamede de Carvalho,Sandro Orru,Denis Brunet,Jean-Pierre Bouchard,Philip Awadalla,Philip Awadalla,Nicolas Dupré,Patrick A. Dion,Patrick A. Dion,Guy A. Rouleau,Guy A. Rouleau +24 more
TL;DR: The MATR3 mutation frequency in French-Canadian ALS and control individuals was assessed and showed that MATR 3 mutations were found in 0%, 1.8%, and 0% of FALS, SALS, and controls, respectively.