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

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

离子通道病是与小脑萎缩相关的遗传性共济失调的常见病因

Gauquelin, Laurence; Hartley, Taila; Tarnopolsky, Mark; Dyment, David A; Brais, Bernard; Geraghty, Michael T; Tétreault, Martine; Ahmed, Sohnee; Rojas, Samantha; Choquet, Karine; Majewski, Jacek; Bernier, François; Innes, Allan Micheil; Rouleau, Guy; Suchowersky, Oksana; Boycott, Kym M; Yoon, Grace

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

编码线粒体 LonP1 蛋白酶的 LONP1 双等位基因突变导致丙酮酸脱氢酶缺乏和严重的神经退行性病变,并伴有进行性小脑萎缩

Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Susan Blaser, Sohnee Ahmed, Jessie Cameron, Kamalendra Singh, Peter N Ray, Carolyn K Suzuki, Grace Yoon

Clinical and genetic study of hereditary spastic paraplegia in Canada

加拿大遗传性痉挛性截瘫的临床和遗传学研究

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

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

UNC80 的双等位基因突变会导致持续性肌张力低下、脑病、生长迟缓和严重智力障碍

Stray-Pedersen Asbjørg, Cobben Jan-Maarten, Prescott Trine E, Lee Sora, Cang Chunlei, Aranda Kimberly, Ahmed Sohnee, Alders Marielle, Gerstner Thorsten, Aslaksen Kathinka, Tétreault Martine, Qin Wen, Hartley Taila, Jhangiani Shalini N, Muzny Donna M, Tarailo-Graovac Maja, van Karnebeek Clara D M, Lupski James R, Ren Dejian, Yoon Grace

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

全基因组测序拓展了儿科医学的诊断应用范围,并改善了临床管理。

Stavropoulos, Dimitri J; Merico, Daniele; Jobling, Rebekah; Bowdin, Sarah; Monfared, Nasim; Thiruvahindrapuram, Bhooma; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Yuen, Ryan K C; Szego, Michael J; Hayeems, Robin Z; Shaul, Randi Zlotnik; Brudno, Michael; Girdea, Marta; Frey, Brendan; Alipanahi, Babak; Ahmed, Sohnee; Babul-Hirji, Riyana; Porras, Ramses Badilla; Carter, Melissa T; Chad, Lauren; Chaudhry, Ayeshah; Chitayat, David; Doust, Soghra Jougheh; Cytrynbaum, Cheryl; Dupuis, Lucie; Ejaz, Resham; Fishman, Leona; Guerin, Andrea; Hashemi, Bita; Helal, Mayada; Hewson, Stacy; Inbar-Feigenberg, Michal; Kannu, Peter; Karp, Natalya; Kim, Raymond; Kronick, Jonathan; Liston, Eriskay; MacDonald, Heather; Mercimek-Mahmutoglu, Saadet; Mendoza-Londono, Roberto; Nasr, Enas; Nimmo, Graeme; Parkinson, Nicole; Quercia, Nada; Raiman, Julian; Roifman, Maian; Schulze, Andreas; Shugar, Andrea; Shuman, Cheryl; Sinajon, Pierre; Siriwardena, Komudi; Weksberg, Rosanna; Yoon, Grace; Carew, Chris; Erickson, Raith; Leach, Richard A; Klein, Robert; Ray, Peter N; Meyn, M Stephen; Scherer, Stephen W; Cohn, Ronald D; Marshall, Christian R

Epilepsy and outcome in FOXG1-related disorders

FOXG1相关疾病的癫痫和预后

Seltzer, Laurie E; Ma, Mandy; Ahmed, Sohnee; Bertrand, Mary; Dobyns, William B; Wheless, James; Paciorkowski, Alex R