G
Guy A. Rouleau
Researcher at Montreal Neurological Institute and Hospital
Publications - 935
Citations - 75050
Guy A. Rouleau is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Gene & Genome-wide association study. The author has an hindex of 129, co-authored 884 publications receiving 65892 citations. Previous affiliations of Guy A. Rouleau include Utrecht University & University of Helsinki.
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Dynamics of microtubules and their associated proteins: Recent insights and clinical implicationsAuthor Response
TL;DR: Editors' Note: In Writ e Click this week, Drs.
Journal ArticleDOI
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.
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GCH1 mutations in hereditary spastic paraplegia.
Parizad Varghaei,Parizad Varghaei,Grace Yoon,Mehrdad Asghari Estiar,Mehrdad Asghari Estiar,Simon Veyron,Etienne Leveille,Nicolas Dupré,Jean-François Trempe,Guy A. Rouleau,Guy A. Rouleau,Ziv Gan-Or,Ziv Gan-Or +12 more
TL;DR: GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4 )-deficient hyperphenylalaninemia B.
Journal Article
[Restless leg syndrome: clinical aspects, etiology and genetic factors].
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Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.
TL;DR: A consanguineous recessive family with 4 members affected with JPLS is described, underlines the important role of ER function in a wide spectrum of motor neuron diseases, and demonstrates that conformational change in the ER affected by mutations in RTN2 results in abnormalities within distal portions of long motor axons and in their presynaptic terminals.