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

Diverse Genetic Etiologies of Unilateral Polymicrogyria

单侧多小脑回畸形的多种遗传病因

Lai, Abbe; Neil, Jennifer E; Akula, Shyam K; Amrom, Dina; Andermann, Eva; Bergin, Ann; Caraballo, Roberto; Chen, Allen Y; Gaitanis, John; Mochida, Ganeshwaran H; Gotoff, Jill M; Kuchukhidze, Giorgi; Marom, Daphna; ElAchkar, Christelle Moufawad; Regev, Miriam; Rodan, Lance H; Olson, Heather; Zhang, Bo; Poduri, Annapurna; Shao, Diane D; Walsh, Christopher A; Yang, Edward

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

外显子组测序及多小脑回畸形中新基因和共同机制的鉴定

Akula, Shyam K; Chen, Allen Y; Neil, Jennifer E; Shao, Diane D; Mo, Alisa; Hylton, Norma K; DiTroia, Stephanie; Ganesh, Vijay S; Smith, Richard S; O'Kane, Katherine; Yeh, Rebecca C; Marciano, Jack H; Kirkham, Samantha; Kenny, Connor J; Song, Janet H T; Al Saffar, Muna; Millan, Francisca; Harris, David J; Murphy, Andrea V; Klemp, Kara C; Braddock, Stephen R; Brand, Harrison; Wong, Isaac; Talkowski, Michael E; O'Donnell-Luria, Anne; Lai, Abbe; Hill, Robert Sean; Mochida, Ganeshwaran H; Doan, Ryan N; Barkovich, A James; Yang, Edward; Amrom, Dina; Andermann, Eva; Poduri, Annapurna; Walsh, Christopher A

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

由DNAJC5基因重复引起的常染色体显性遗传成人神经元蜡样脂褐质沉积症,最初被Sanger测序和全外显子组测序漏诊。

Jedličková, Ivana; Cadieux-Dion, Maxime; Přistoupilová, Anna; Stránecký, Viktor; Hartmannová, Hana; Hodaňová, Kateřina; Barešová, Veronika; Hůlková, Helena; Sikora, Jakub; Nosková, Lenka; Mušálková, Dita; Vyleťal, Petr; Sovová, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

2014年ATP1A3相关疾病国际工作组研究会议总结

Rosewich, Hendrik; Sweney, Matthew T; DeBrosse, Suzanne; Ess, Kevin; Ozelius, Laurie; Andermann, Eva; Andermann, Frederick; Andrasco, Gene; Belgrade, Alice; Brashear, Allison; Ciccodicola, Sharon; Egan, Lynn; George, Alfred L Jr; Lewelt, Aga; Magelby, Joshua; Merida, Mario; Newcomb, Tara; Platt, Vicky; Poncelin, Dominic; Reyna, Sandra; Sasaki, Masayuki; Sotero de Menezes, Marcio; Sweadner, Kathleen; Viollet, Louis; Zupanc, Mary; Silver, Kenneth; Swoboda, Kathryn

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

KCNC1基因的复发性新生突变会导致进行性肌阵挛性癫痫

Muona Mikko, Berkovic Samuel F, Dibbens Leanne M, Oliver Karen L, Maljevic Snezana, Bayly Marta A, Joensuu Tarja, Canafoglia Laura, Franceschetti Silvana, Michelucci Roberto, Markkinen Salla, Heron Sarah E, Hildebrand Michael S, Andermann Eva, Andermann Frederick, Gambardella Antonio, Tinuper Paolo, Licchetta Laura, Scheffer Ingrid E, Criscuolo Chiara, Filla Alessandro, Ferlazzo Edoardo, Ahmad Jamil, Ahmad Adeel, Baykan Betul, Said Edith, Topcu Meral, Riguzzi Patrizia, King Mary D, Ozkara Cigdem, Andrade Danielle M, Engelsen Bernt A, Crespel Arielle, Lindenau Matthias, Lohmann Ebba, Saletti Veronica, Massano João, Privitera Michael, Espay Alberto J, Kauffmann Birgit, Duchowny Michael, Møller Rikke S, Straussberg Rachel, Afawi Zaid, Ben-Zeev Bruria, Samocha Kaitlin E, Daly Mark J, Petrou Steven, Lerche Holger, Palotie Aarno, Lehesjoki Anna-Elina

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

儿童交替性偏瘫:美国AHCF登记处187例受试者的回顾性遗传学研究及基因型-表型相关性分析

Viollet, Louis; Glusman, Gustavo; Murphy, Kelley J; Newcomb, Tara M; Reyna, Sandra P; Sweney, Matthew; Nelson, Benjamin; Andermann, Frederick; Andermann, Eva; Acsadi, Gyula; Barbano, Richard L; Brown, Candida; Brunkow, Mary E; Chugani, Harry T; Cheyette, Sarah R; Collins, Abigail; DeBrosse, Suzanne D; Galas, David; Friedman, Jennifer; Hood, Lee; Huff, Chad; Jorde, Lynn B; King, Mary D; LaSalle, Bernie; Leventer, Richard J; Lewelt, Aga J; Massart, Mylynda B; Mérida, Mario R 2nd; Ptáček, Louis J; Roach, Jared C; Rust, Robert S; Renault, Francis; Sanger, Terry D; Sotero de Menezes, Marcio A; Tennyson, Rachel; Uldall, Peter; Zhang, Yue; Zupanc, Mary; Xin, Winnie; Silver, Kenneth; Swoboda, Kathryn J

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

拉斯穆森脑炎及合并自身免疫性疾病:疾病机制的窗口?

Amrom, Dina; Kinay, Demet; Hart, Yvonne; Berkovic, Samuel F; Laxer, Ken; Andermann, Frederick; Andermann, Eva; Bar-Or, Amit

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

组织蛋白酶F基因突变会导致B型库夫斯病,这是一种成人发病的神经元蜡样脂褐质沉积症。

Smith, Katherine R; Dahl, Hans-Henrik M; Canafoglia, Laura; Andermann, Eva; Damiano, John; Morbin, Michela; Bruni, Amalia C; Giaccone, Giorgio; Cossette, Patrick; Saftig, Paul; Grötzinger, Joachim; Schwake, Michael; Andermann, Frederick; Staropoli, John F; Sims, Katherine B; Mole, Sara E; Franceschetti, Silvana; Alexander, Noreen A; Cooper, Jonathan D; Chapman, Harold A; Carpenter, Stirling; Berkovic, Samuel F; Bahlo, Melanie

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

伴有胼胝体和小脑发育不全的三角区和颞枕叶异位症

Pisano, Tiziana; Barkovich, A James; Leventer, Richard J; Squier, Waney; Scheffer, Ingrid E; Parrini, Elena; Blaser, Susan; Marini, Carla; Robertson, Stephen; Tortorella, Gaetano; Rosenow, Felix; Thomas, Pierre; McGillivray, George; Andermann, Eva; Andermann, Frederick; Berkovic, Samuel F; Dobyns, William B; Guerrini, Renzo

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

库夫斯病是成人神经元蜡样脂褐质沉积症的主要类型,由CLN6基因突变引起。

Arsov, Todor; Smith, Katherine R; Damiano, John; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J; Andermann, Eva; Vears, Danya F; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul; Andermann, Frederick; Mole, Sara E; Bahlo, Melanie; Berkovic, Samuel F