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

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course

三例携带ABCA3基因致病变异的婴儿:临床表现、治疗及病程

Si, Xin; Steffes, Lea C; Schymick, Jennifer C; Hazard, Florette K; Tracy, Michael C; Cornfield, David N

Outcomes of Post-Operative Treatment with Concurrent Chemoradiotherapy (CRT) in High-Risk Resected Oral Cavity Squamous Cell Carcinoma (OCSCC): A Multi-Institutional Collaboration

高危口腔鳞状细胞癌(OCSCC)切除术后同步放化疗(CRT)的疗效:一项多中心合作研究

Babar, Arslan; Woody, Neil M; Ghanem, Ahmed I; Tsai, Jillian; Dunlap, Neal E; Schymick, Matthew; Liu, Howard Y; Burkey, Brian B; Lamarre, Eric D; Ku, Jamie A; Scharpf, Joseph; Prendes, Brandon L; Joshi, Nikhil P; Caudell, Jimmy J; Siddiqui, Farzan; Porceddu, Sandro V; Lee, Nancy; Schwartzman, Larisa; Koyfman, Shlomo A; Adelstein, David J; Geiger, Jessica L

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

拓展肌萎缩侧索硬化症和额颞叶痴呆的遗传学研究

Schymick, Jennifer C; Traynor, Bryan J

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

C9ORF72基因中六核苷酸重复序列的扩增是9p21染色体连锁的ALS-FTD的病因。

Renton, Alan E; Majounie, Elisa; Waite, Adrian; Simón-Sánchez, Javier; Rollinson, Sara; Gibbs, J Raphael; Schymick, Jennifer C; Laaksovirta, Hannu; van Swieten, John C; Myllykangas, Liisa; Kalimo, Hannu; Paetau, Anders; Abramzon, Yevgeniya; Remes, Anne M; Kaganovich, Alice; Scholz, Sonja W; Duckworth, Jamie; Ding, Jinhui; Harmer, Daniel W; Hernandez, Dena G; Johnson, Janel O; Mok, Kin; Ryten, Mina; Trabzuni, Danyah; Guerreiro, Rita J; Orrell, Richard W; Neal, James; Murray, Alex; Pearson, Justin; Jansen, Iris E; Sondervan, David; Seelaar, Harro; Blake, Derek; Young, Kate; Halliwell, Nicola; Callister, Janis Bennion; Toulson, Greg; Richardson, Anna; Gerhard, Alex; Snowden, Julie; Mann, David; Neary, David; Nalls, Michael A; Peuralinna, Terhi; Jansson, Lilja; Isoviita, Veli-Matti; Kaivorinne, Anna-Lotta; Hölttä-Vuori, Maarit; Ikonen, Elina; Sulkava, Raimo; Benatar, Michael; Wuu, Joanne; Chiò, Adriano; Restagno, Gabriella; Borghero, Giuseppe; Sabatelli, Mario; Heckerman, David; Rogaeva, Ekaterina; Zinman, Lorne; Rothstein, Jeffrey D; Sendtner, Michael; Drepper, Carsten; Eichler, Evan E; Alkan, Can; Abdullaev, Ziedulla; Pack, Svetlana D; Dutra, Amalia; Pak, Evgenia; Hardy, John; Singleton, Andrew; Williams, Nigel M; Heutink, Peter; Pickering-Brown, Stuart; Morris, Huw R; Tienari, Pentti J; Traynor, Bryan J

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

在意大利ALS患者队列中,前粒蛋白基因变异对疾病发病机制没有显著影响。

Del Bo, Roberto; Corti, Stefania; Santoro, Domenico; Ghione, Isabella; Fenoglio, Chiara; Ghezzi, Serena; Ranieri, Michela; Galimberti, Daniela; Mancuso, Michelangelo; Siciliano, Gabriele; Briani, Chiara; Murri, Luigi; Scarpini, Elio; Schymick, Jennifer C; Traynor, Bryan J; Bresolin, Nereo; Comi, Giacomo P

FUS mutations in sporadic amyotrophic lateral sclerosis

散发性肌萎缩侧索硬化症中的FUS基因突变

Lai, Shiao-Lin; Abramzon, Yevgeniya; Schymick, Jennifer C; Stephan, Dietrich A; Dunckley, Travis; Dillman, Allissa; Cookson, Mark; Calvo, Andrea; Battistini, Stefania; Giannini, Fabio; Caponnetto, Claudia; Mancardi, Giovanni Luigi; Spataro, Rossella; Monsurro, Maria Rosaria; Tedeschi, Gioacchino; Marinou, Kalliopi; Sabatelli, Mario; Conte, Amelia; Mandrioli, Jessica; Sola, Patrizia; Salvi, Fabrizio; Bartolomei, Ilaria; Lombardo, Federica; Mora, Gabriele; Restagno, Gabriella; Chiò, Adriano; Traynor, Bryan J

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

芬兰肌萎缩侧索硬化症中9p21染色体:一项全基因组关联研究

Laaksovirta, Hannu; Peuralinna, Terhi; Schymick, Jennifer C; Scholz, Sonja W; Lai, Shaoi-Lin; Myllykangas, Liisa; Sulkava, Raimo; Jansson, Lilja; Hernandez, Dena G; Gibbs, J Raphael; Nalls, Michael A; Heckerman, David; Tienari, Pentti J; Traynor, Bryan J

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

3个家族中患有肌萎缩侧索硬化症-额颞叶痴呆症,这些家族均携带p.Ala382Thr TARDBP突变

Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Restagno, Gabriella; Ossola, Irene; Brunetti, Maura; Montuschi, Anna; Cistaro, Angelina; Ticca, Anna; Traynor, Bryan J; Schymick, Jennifer C; Mutani, Roberto; Marrosu, Maria Giovanna; Murru, Maria Rita; Borghero, Giuseppe

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

驱动蛋白相关蛋白 3 (KIFAP3) 对 ALS 患者群体的生存没有影响

Bryan J Traynor, Michael Nalls, Shiao-Lin Lai, Raphael J Gibbs, Jennifer C Schymick, Sampath Arepalli, Dena Hernandez, Marcel P van der Brug, Janel O Johnson, Allissa Dillman, Mark Cookson, Cristina Moglia, Andrea Calvo, Gabriella Restagno, Gabriele Mora, Adriano Chiò