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1.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

Lemire, Gabrielle; Ito, Yoko A; Marshall, Aren E; Chrestian, Nicolas; Stanley, Valentina; Brady, Lauren; Tarnopolsky, Mark; Curry, Cynthia J; Hartley, Taila; Mears, Wendy; Derksen, Alexa; Rioux, Nadie; Laflamme, Nataly; Hutchison, Harrol T; Pais, Lynn S; Zaki, Maha S; Sultan, Tipu; Dane, Adrie D; Gleeson, Joseph G; Vaz, Frédéric M; Kernohan, Kristin D; Bernard, Geneviève; Boycott, Kym M.

Am J Hum Genet ; 108(10): 2017-2023, 2021 10 07.

Artículo en Inglés | MEDLINE | ID: mdl-34587489

2.

Adrenal insufficiency among children treated with hormonal therapy for infantile spasms.

Doré-Brabant, Gabrielle; Laflamme, Geneviève; Millette, Maude; Osterman, Bradley; Chrestian, Nicolas.

Epilepsia ; 63(9): 2350-2358, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35759339

3.

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

Pellerin, David; Aykanat, Asli; Ellezam, Benjamin; Troiano, Emily C; Karamchandani, Jason; Dicaire, Marie-Josée; Petitclerc, Marc; Robertson, Rebecca; Allard-Chamard, Xavier; Brunet, Denis; Konersman, Chamindra G; Mathieu, Jean; Warman Chardon, Jodi; Gupta, Vandana A; Beggs, Alan H; Brais, Bernard; Chrestian, Nicolas.

Ann Neurol ; 87(4): 568-583, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31970803

4.

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Picher-Martel, Vincent; Labrie, Yvan; Rivest, Serge; Lace, Baiba; Chrestian, Nicolas.

BMC Neurol ; 20(1): 58, 2020 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-32061250

5.

A National Spinal Muscular Atrophy Registry for Real-World Evidence.

Hodgkinson, Victoria L; Oskoui, Maryam; Lounsberry, Joshua; M'Dahoma, Saïd; Butler, Emily; Campbell, Craig; MacKenzie, Alex; McMillan, Hugh J; Simard, Louise; Vajsar, Jiri; Brais, Bernard; Chapman, Kristine M; Chrestian, Nicolas; Crone, Meghan; Dobrowolski, Peter; Dojeiji, Susan; Dowling, James J; Dupré, Nicolas; Genge, Angela; Gonorazky, Hernan; Hasal, Simona; Izenberg, Aaron; Johnston, Wendy; Leung, Edward; Lochmüller, Hanns; Mah, Jean K; Marerro, Alier; Massie, Rami; McAdam, Laura; McCormick, Anna; Melanson, Michel; Mezei, Michelle M; Nguyen, Cam-Tu E; O'Connell, Colleen; O'Ferrall, Erin K; Pfeffer, Gerald; Phan, Cecile; Plamondon, Stephanie; Poulin, Chantal; Rodrigue, Xavier; Schellenberg, Kerri L; Selby, Kathy; Sheriko, Jordan; Shoesmith, Christen; Smith, Garth; Taillon, Monique; Taylor, Sean; Warman Chardon, Jodi; Worley, Scott; Korngut, Lawrence.

Can J Neurol Sci ; 47(6): 810-815, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32493524

6.

Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy.

Marmen, Maude B; Orfi, Zakaria; Dort, Junio; Proulx-Gauthier, Jean-Philippe; Chrestian, Nicolas; Dumont, Nicolas A; Ellezam, Benjamin.

Acta Neuropathol ; 146(4): 655-658, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37543531

7.

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.

Gagnon, Cynthia; Kierkegaard, Marie; Blackburn, Catherine; Chrestian, Nicolas; Lavoie, Mélissa; Bouchard, Marie-Frédéric; Mathieu, Jean.

Dev Med Child Neurol ; 59(3): 291-296, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27671786

8.

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.

Alsubhi, Sarah; Osterman, Bradley; Chrestian, Nicolas; Dubeau, François; Buhas, Daniela; Srour, Myriam.

Front Neurol ; 13: 913652, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36324377

9.

Case Report: Two Families With HPDL Related Neurodegeneration.

Micule, Ieva; Lace, Baiba; Wright, Nathan T; Chrestian, Nicolas; Strautmanis, Jurgis; Diriks, Mikus; Stavusis, Janis; Kidere, Dita; Kleina, Elfa; Zdanovica, Anna; Laflamme, Nataly; Rioux, Nadie; Setty, Samarth Thonta; Pajusalu, Sander; Droit, Arnaud; Lek, Monkol; Rivest, Serge; Inashkina, Inna.

Front Genet ; 13: 780764, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35222531

10.

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

Laflamme, Nathalie; Lace, Baiba; Thonta Setty, Samarth; Rioux, Nadie; Labrie, Yvan; Droit, Arnaud; Chrestian, Nicolas; Rivest, Serge.

Front Neurol ; 12: 660113, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-34211429

11.

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

Pal, Maitou; Lace, Baiba; Labrie, Yvan; Laflamme, Nathalie; Rioux, Nadie; Setty, Samarth Thonta; Dugas, Marc-Andre; Gosselin, Louise; Droit, Arnaud; Chrestian, Nicolas; Rivest, Serge.

JIMD Rep ; 59(1): 32-41, 2021 May.

Artículo en Inglés | MEDLINE | ID: mdl-33977028

12.

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Picher-Martel, Vincent; Brunet, Francis; Dupré, Nicolas; Chrestian, Nicolas.

J Child Neurol ; 35(8): 556-562, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32281455

13.

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.

Stavusis, Janis; Micule, Ieva; Wright, Nathan T; Straub, Volker; Topf, Ana; Panadés-de Oliveira, Luísa; Domínguez-González, Cristina; Inashkina, Inna; Kidere, Dita; Chrestian, Nicolas; Lace, Baiba.

Neuromuscul Disord ; 30(6): 483-491, 2020 06.

Artículo en Inglés | MEDLINE | ID: mdl-32448721

14.

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Beaudin, Marie; Sellami, Leila; Martel, Christian; Touzel-Deschênes, Lydia; Houle, Gabrielle; Martineau, Laurence; Lacroix, Kevin; Lavallée, Andréane; Chrestian, Nicolas; Rouleau, Guy A; Gros-Louis, François; Laforce, Robert; Dupré, Nicolas.

Neurol Genet ; 6(2): e403, 2020 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-32211516

15.

A novel mutation in a large French-Canadian family with LGMD1B.

Chrestian, Nicolas; Valdmanis, Paul N; Echahidi, Najmeddine; Brunet, Denis; Bouchard, Jean-Pierre; Gould, Peter; Rouleau, Guy A; Champagne, Jean; Dupré, Nicolas.

Can J Neurol Sci ; 35(3): 331-4, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18714801

16.

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M; Stavropoulos, Dimitri J; Dion, Patrick A; Ray, Peter N; Suchowersky, Oksana; Rouleau, Guy A; Yoon, Grace.

Neurol Genet ; 3(1): e122, 2017 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-27957547

17.

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

Chrestian, Nicolas; McMillan, Hugh; Poulin, Chantal; Campbell, Craig; Vajsar, Jiri.

Neuromuscul Disord ; 25(9): 693-8, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26189194

18.

Response.

Chrestian, Nicolas; Vajsar, Jiri.

Neuromuscul Disord ; 26(6): 394, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27156502

19.

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré, Nicolas; Chrestian, Nicolas; Bouchard, Jean-Pierre; Rossignol, Elsa; Brunet, Denis; Sternberg, Damien; Brais, Bernard; Mathieu, Jean; Puymirat, Jack.

Neuromuscul Disord ; 19(5): 330-4, 2009 May.

Artículo en Inglés | MEDLINE | ID: mdl-18337100

20.

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Dupré, Nicolas; Gros-Louis, François; Chrestian, Nicolas; Verreault, Steve; Brunet, Denis; de Verteuil, Danielle; Brais, Bernard; Bouchard, Jean-Pierre; Rouleau, Guy A.

Ann Neurol ; 62(1): 93-8, 2007 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-17503513

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