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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
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 4, p. 728, doi. 10.1111/j.1528-1167.2010.02975.x
By:
- Srour, Myriam;
- Rioux, Marie-France;
- Varga, Caroline;
- Lortie, Anne;
- Major, Philippe;
- Robitaille, Yves;
- Décarie, Jean-Claude;
- Michaud, Jacques;
- Carmant, Lionel
Publication type:
Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
By:
- Leveille, Etienne;
- Gonorazky, Hernan D.;
- Rioux, Marie‐France;
- Hazrati, Lili‐Naz;
- Ruskey, Jennifer A.;
- Carnevale, Amanda;
- Spiegelman, Dan;
- Dionne‐Laporte, Alexandre;
- Rouleau, Guy A.;
- Yoon, Grace;
- Gan‐Or, Ziv
Publication type:
Article
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.
Published in:
PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
By:
- Bayat, Vafa;
- Thiffault, Isabelle;
- Jaiswal, Manish;
- Tétreault, Martine;
- Donti, Taraka;
- Sasarman, Florin;
- Bernard, Geneviève;
- Demers-Lamarche, Julie;
- Dicaire, Marie-Josée;
- Mathieu, Jean;
- Vanasse, Michel;
- Bouchard, Jean-Pierre;
- Rioux, Marie-France;
- Lourenco, Charles M.;
- Zhihong Li;
- Haueter, Claire;
- Shoubridge, Eric A.;
- Graham, Brett H.;
- Brais, Bernard;
- Bellen, Hugo J.
Publication type:
Article
CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects.
Published in:
Canadian Journal of Neurological Sciences, 2012, v. 39, n. 1, p. 91, doi. 10.1017/S0317167100012774
By:
- Noreau, Anne;
- Dion, Patrick A.;
- Szuto, Anna;
- Levert, Annie;
- Thibodeau, Pascale;
- Brais, Bernard;
- Dupré, Nicolas;
- Rioux, Marie-France;
- Rouleau, Guy A.
Publication type:
Article
SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia.
Published in:
Canadian Journal of Neurological Sciences, 2007, v. 34, n. 2, p. 211, doi. 10.1017/S0317167100006065
By:
- Meijer, Inge. A.;
- Dupré, Nicolas;
- Brais, Bernard;
- Cossette, Patrick;
- St-Onge, Judith;
- Rioux, Marie-France;
- Benard, Melanie;
- Rouleau, Guy A.
Publication type:
Article

Found: 6

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

The clinical spectrum of nodular heterotopias in children: Report of 31 patients.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects.

SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia.