日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience

魁北克脊髓性肌萎缩症新生儿筛查项目:第一年的经验

Groulx-Boivin, Emilie; Belzile, Ariane; Nguyen, Cam-Tu Émilie; Gauthier, Amélie; Chrestian, Nicolas; Michaud-Gosselin, Catherine; Giguère, Yves; Berthier, Marie-Thérèse; Soucy, Jean-François; Laberge, Anne-Marie; Oskoui, Maryam

Case Report: Two Families With HPDL Related Neurodegeneration

病例报告:两例与HPDL相关的神经退行性疾病

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

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

病例报告:PLPHP 缺乏症,一种罕见但重要的维生素 B6 反应性疾病病因:三例新病例报告及 51 例病例回顾

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

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

ABHD16A 缺陷会导致一种复杂的遗传性痉挛性截瘫,并伴有智力障碍和脑部异常。

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

The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

加拿大神经肌肉疾病登记处 2010-2019:通过全国性、泛神经肌肉疾病登记处促进临床研究的十年

Hodgkinson, V; Lounsberry, J; M'Dahoma, S; Russell, A; Jewett, G; Benstead, T; Brais, B; Campbell, C; Johnston, W; Lochmüller, H; McCormick, A; Nguyen, C T; O'Ferrall, E; Oskoui, M; Abrahao, A; Briemberg, H; Bourque, P R; Botez, S; Cashman, N; Chapman, K; Chrestian, N; Crone, M; Dobrowolski, P; Dojeiji, S; Dowling, J J; Dupré, N; Genge, A; Gonorazky, H; Grant, I; Hasal, S; Izenberg, A; Kalra, S; Katzberg, H; Krieger, C; Leung, E; Linassi, G; Mackenzie, A; Mah, J K; Marrero, A; Massie, R; Matte, G; McAdam, L; McMillan, H; Melanson, M; Mezei, M M; O'Connell, C; Pfeffer, G; Phan, C; Plamondon, S; Poulin, C; Rodrigue, X; Schellenberg, K; Selby, K; Sheriko, J; Shoesmith, C; Smith, R G; Taillon, M; Taylor, S; Venance, S; Warman-Chardon, J; Worley, S; Zinman, L; Korngut, L

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

纯合深内含子突变改变了线粒体肌病患者线粒体蛋白基因的剪接。

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

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

萨格奈-拉克-圣让地区患有吡哆醇依赖性癫痫的家族中 PLPBP 基因的创始突变

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

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

SCA34 中认知障碍和蛋白质错误定位表型的表征

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

A National Spinal Muscular Atrophy Registry for Real-World Evidence

国家脊髓性肌萎缩症真实世界证据登记处

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

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

全外显子组测序鉴定出一名原发性小头畸形患儿的TTI2基因纯合突变:病例报告

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