Works matching AU Lévesque, Sébastien

Results: 19

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 17, p. 3868, doi. 10.3390/jcm10173868

By:

Thuriot, Fanny;
Gravel, Elaine;
Hodson, Katherine;
Ganopolsky, Jorge;
Rakic, Bojana;
Waters, Paula J.;
Gravel, Serge;
Lévesque, Sébastien

Publication type:

Article

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3054, doi. 10.1093/hmg/ddaa198

By:

Zha, Congyao;
Farah, Carole A;
Holt, Richard J;
Ceroni, Fabiola;
Al-Abdi, Lama;
Thuriot, Fanny;
Khan, Arif O;
Helaby, Rana;
Lévesque, Sébastien;
Alkuraya, Fowzan S;
Kraus, Alison;
Ragge, Nicola K;
Sossin, Wayne S

Publication type:

Article

Le Nouveau Régime: Épisode de la Mise en Oeuvre de Nutrition Nord Canada au Nunavik, 2011-2013.

Published in:

Canadian Review of Social Policy / Revue Canadienne de Politique Sociale, 2018, n. 78, p. 52

By:

Duhaime, Gérard;
Caron, Andrée;
Lévesque, Sébastien;
Baribeau, Marileine

Publication type:

Article

Glutamatergic modulation of synaptic plasticity at a PNS vertebrate cholinergic synapse.

Published in:

European Journal of Neuroscience, 2003, v. 18, n. 12, p. 3241, doi. 10.1111/j.1460-9568.2003.03028.x

By:

Pinard, Audrée;
Lévesque, Sébastien;
Vallée, Joanne;
Robitaille, Richard

Publication type:

Article

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7

By:

Cheung, Anthony;
Argyriou, Catherine;
Yergeau, Christine;
D'Souza, Yasmin;
Riou, Émilie;
Lévesque, Sébastien;
Raymond, Gerald;
Daba, Mebratu;
Rtskhiladze, Irakli;
Tkemaladze, Tinatin;
Adang, Laura;
La Piana, Roberta;
Bernard, Geneviève;
Braverman, Nancy

Publication type:

Article

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Published in:

2016

By:

Lévesque, Sébastien;
Auray-Blais, Christiane;
Gravel, Elaine;
Boutin, Michel;
Dempsey-Nunez, Laura;
Jacques, Pierre-Etienne;
Chenier, Sébastien;
Larue, Sandrine;
Rioux, Marie-France;
Al-Hertani, Walla;
Nadeau, Amelie;
Mathieu, Jean;
Maranda, Bruno;
Désilets, Valérie;
Waters, Paula J.;
Keutzer, Joan;
Austin, Stephanie;
Kishnani, Priya

Publication type:

journal article

Fluorescent N2,N3-ɛ-Adenine Nucleoside and Nucleotide Probes: Synthesis, Spectroscopic Properties, and Biochemical EvaluationA US patent application was filed on 24 January, 2005.

Published in:

ChemBioChem, 2006, v. 7, n. 9, p. 1361, doi. 10.1002/cbic.200600070

By:

Einat Sharon;
Sébastien A. Lévesque;
Mercedes N. Munkonda;
Jean Sévigny;
Denise Ecke;
Georg Reiser;
Bilha Fischer

Publication type:

Article

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032

By:

Levtova, Alina;
Waters, Paula J.;
Buhas, Daniela;
Lévesque, Sébastien;
Auray‐Blais, Christiane;
Clarke, Joe T.R.;
Laframboise, Rachel;
Maranda, Bruno;
Mitchell, Grant A.;
Brunel‐Guitton, Catherine;
Braverman, Nancy E.

Publication type:

Article

Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.

Published in:

Thyroid, 2019, v. 29, n. 7, p. 1018, doi. 10.1089/thy.2018.0461

By:

Dufort, Gabrielle;
Larrivée-Vanier, Stéphanie;
Eugène, Dardye;
De Deken, Xavier;
Seebauer, Britta;
Heinimann, Karl;
Lévesque, Sébastien;
Gravel, Serge;
Szinnai, Gabor;
Van Vliet, Guy;
Deladoëy, Johnny

Publication type:

Article

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 2, p. 426, doi. 10.1007/s10897-017-0133-4

By:

Fan, Chia Wei;
Castonguay, Lysanne;
Rummell, Sonja;
Lévesque, Sébastien;
Mitchell, John J.;
Sillon, Guillaume

Publication type:

Article

Inequality and social processes in Inuit Nunangat.

Published in:

Polar Journal, 2016, v. 6, n. 1, p. 69, doi. 10.1080/2154896X.2016.1173795

By:

Lévesque, Sébastien;
Duhaime, Gérard

Publication type:

Article

A highly sensitive CE-UV method with dynamic coating of silica-fused capillaries for monitoring of nucleotide pyrophosphatase/phosphodiesterase reactions.

Published in:

Electrophoresis, 2008, v. 29, n. 17, p. 3685, doi. 10.1002/elps.200800013

By:

Iqbal, Jamshed;
Lévesque, Sébastien A.;
Sévigny, Jean;
Müller, Christa E.

Publication type:

Article

Central Canal Ependymal Cells Proliferate Extensively in Response to Traumatic Spinal Cord Injury but Not Demyelinating Lesions.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085916

By:

Lacroix, Steve;
Hamilton, Laura K.;
Vaugeois, Alexandre;
Beaudoin, Stéfanny;
Breault-Dugas, Christian;
Pineau, Isabelle;
Lévesque, Sébastien A.;
Grégoire, Catherine-Alexandra;
Fernandes, Karl J. L.

Publication type:

Article

"Acquired" Brugada syndrome in a cardiac allograft.

Published in:

Pediatric Transplantation, 2022, v. 26, n. 5, p. 1, doi. 10.1111/petr.14276

By:

Power, Alyssa;
Lynch, Áine;
Zahavich, Laura;
Lévesque, Sébastien A.;
Stephenson, Elizabeth A.;
Jean‐St‐Michel, Emilie;
Dipchand, Anne I.;
Jeewa, Aamir

Publication type:

Article

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004

By:

Srour, Myriam;
Caron, Véronique;
Pearson, Toni;
Nielsen, Sarah B.;
Lévesque, Sébastien;
Delrue, Marie‐Ange;
Becker, Troy A.;
Hamdan, Fadi F.;
Kibar, Zoha;
Sattler, Shannon G.;
Schneider, Michael C.;
Bitoun, Pierre;
Chassaing, Nicolas;
Rosenfeld, Jill A.;
Xia, Fan;
Desai, Sonal;
Roeder, Elizabeth;
Kimonis, Virginia;
Schneider, Adele;
Littlejohn, Rebecca Okashah

Publication type:

Article

FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome.

Published in:

2020

By:

Leal Ferman, Luis André;
Lévesque, Mathieu;
Lévesque, Sébastien;
Bocti, Christian

Publication type:

Letter

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000

By:

Waters, Paula J.;
Lace, Baiba;
Buhas, Daniela;
Gravel, Serge;
Cyr, Denis;
Boucher, Renée‐Myriam;
Bernard, Geneviève;
Lévesque, Sébastien;
Maranda, Bruno

Publication type:

Article

NTPDase1 governs P2X.

Published in:

European Journal of Immunology, 2010, v. 40, n. 5, p. 1473, doi. 10.1002/eji.200939741

By:

Lévesque, Sébastien A.;
Kukulski, Filip;
Enjyoji, Keiichi;
Robson, Simon C.;
Sévigny, Jean

Publication type:

Article

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Published in:

BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-22

By:

Trakadis, Yannis J.;
Buote, Caroline;
Therriault, Jean-François;
Jacques, Pierre-Étienne;
Larochelle, Hugo;
Lévesque, Sébastien

Publication type:

Article