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

Advancing Parkinson's Disease Research in Africa: A Strategic Training Framework of the Global Parkinson's Genetics Program

推进非洲帕金森病研究:全球帕金森病遗传学计划的战略培训框架

Step, Kathryn; Eltaraifee, Esraa; Elsayed, Inas; Rasaholiarison, Nomena; Okubadejo, Njideka; Walker, Richard; Mohamed, Wael; Rizig, Mie; Bandres-Ciga, Sara; Noyce, Alastair J; Dey, Sumit; Bardien, Soraya; Periñan, Maria Teresa

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations

全基因组评估在不同祖先群体中发现了与帕金森病病因相关的新的纯合性片段。

Step, Kathryn; Hernández, Carlos F; Eltaraifee, Esraa; Hernández-Medrano, Ana Jimena; Kung, Pin-Jui; Ostrožovičová, Miriam; Zirra, Alexandra; Pérez-Palma, Eduardo; Mencacci, Niccolò E; Keller Sarmiento, Ignacio J; Morris, Huw R; Mata, Ignacio F; Acosta-Uribe, Juliana; Fang, Zih-Hua; Bandres-Ciga, Sara

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

PRRT2双等位基因变异可能使人易患自限性家族性婴儿癫痫

Koko, Mahmoud; Elseed, Maha A; Mohammed, Inaam N; Hamed, Ahlam A; Abd Allah, Amal S I; Yahia, Ashraf; Siddig, Rayan A; Altmüller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O; Amin, Mutaz; Ahmed, Elhami A; Eltazi, Isra Z M; Elmugadam, Fatima A; Abdelgadir, Wasma A; Eltaraifee, Esraa; Ibrahim, Mohamed O M; Ali, Nabila M H; Malik, Hiba M; Babai, Arwa M; Bakhit, Yousuf H; Nürnberg, Peter; Ibrahim, Muntaser E; Salih, Mustafa A; Schubert, Julian; Elsayed, Liena E O; Lerche, Holger

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

病例报告:来自苏丹的10例脑桥小脑发育不全病例

Amin, Mutaz; Vignal, Cedric; Hamed, Ahlam A A; Mohammed, Inaam N; Elseed, Maha A; Abubaker, Rayan; Bakhit, Yousuf; Babai, Arwa; Elbadi, Eman; Eltaraifee, Esraa; Mustafa, Doua; Yahia, Ashraf; Osman, Melka; Koko, Mahmoud; Mustafa, Mohamed; Alsiddig, Mohamed; Haroun, Sahwah; Elshafea, Azza; Drunat, Severine; Elsayed, Liena E O; Ahmed, Ammar E; Boespflug-Tanguy, Odile; Dorboz, Imen

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

TRAPPC9基因中一种新的纯合突变导致常染色体隐性非综合征型智力障碍

Amin, Mutaz; Vignal, Cedric; Eltaraifee, Esraa; Mohammed, Inaam N; Hamed, Ahlam A A; Elseed, Maha A; Babai, Arwa; Elbadi, Iman; Mustafa, Doua; Abubaker, Rayan; Mustafa, Mohamed; Drunat, Severine; Elsayed, Liena E O; Ahmed, Ammar E; Boespflug-Tanguy, Odile; Dorboz, Imen