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

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

KCTD7 缺乏症是一种独特的神经退行性疾病,具有保守的自噬溶酶体缺陷

Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M Lamb, Bart E Wagner, Jill A Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E Meadow, Tim Sen Wang, Edda D Haberlandt, Glenn W Anderson, Esther Leshinsky-Silver, Weimin Bi, Thomas C Markello, Marsha Pratt, Nawal Makhseed, Adolfo Garnic

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

EIF2S3 突变与严重 X 连锁智力残疾综合征相关 MEHMO

Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

KIF1A基因的新生突变会导致进行性脑病和脑萎缩。

Esmaeeli Nieh, Sahar; Madou, Maura R Z; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E; Smaoui, Nizar; Pappas, John G; Burrow, Thomas A; McDonald, Marie T; Latibashvili, Mariam; Leshinsky-Silver, Esther; Lev, Dorit; Blumkin, Luba; Vale, Ronald D; Barkovich, Anthony James; Sherr, Elliott H

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

ADCK3基因杂合突变与小脑萎缩和极端表型变异的同胞有关

Blumkin, Lubov; Leshinsky-Silver, Esther; Zerem, Ayelet; Yosovich, Keren; Lerman-Sagie, Tally; Lev, Dorit

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

天冬酰胺合成酶缺乏会导致先天性小头畸形和进行性脑病。

Ruzzo, Elizabeth K; Capo-Chichi, José-Mario; Ben-Zeev, Bruria; Chitayat, David; Mao, Hanqian; Pappas, Andrea L; Hitomi, Yuki; Lu, Yi-Fan; Yao, Xiaodi; Hamdan, Fadi F; Pelak, Kimberly; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Oz-Levi, Danit; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Anikster, Yair; Ben-Asher, Edna; Olender, Tsviya; Colleaux, Laurence; Décarie, Jean-Claude; Blaser, Susan; Banwell, Brenda; Joshi, Rasesh B; He, Xiao-Ping; Patry, Lysanne; Silver, Rachel J; Dobrzeniecka, Sylvia; Islam, Mohammad S; Hasnat, Abul; Samuels, Mark E; Aryal, Dipendra K; Rodriguiz, Ramona M; Jiang, Yong-Hui; Wetsel, William C; McNamara, James O; Rouleau, Guy A; Silver, Debra L; Lancet, Doron; Pras, Elon; Mitchell, Grant A; Michaud, Jacques L; Goldstein, David B

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

SAMHD1基因中的大片段纯合缺失会导致与线粒体DNA缺失相关的非典型艾卡迪-古蒂埃综合征。

Leshinsky-Silver, Esther; Malinger, Gustavo; Ben-Sira, Liat; Kidron, Dvora; Cohen, Sarit; Inbar, Shani; Bezaleli, Tali; Levine, Arie; Vinkler, Chana; Lev, Dorit; Lerman-Sagie, Tally

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

硒代半胱氨酸形成受阻的突变会导致进行性小脑萎缩。

Agamy, Orly; Ben Zeev, Bruria; Lev, Dorit; Marcus, Barak; Fine, Dina; Su, Dan; Narkis, Ginat; Ofir, Rivka; Hoffmann, Chen; Leshinsky-Silver, Esther; Flusser, Hagit; Sivan, Sara; Söll, Dieter; Lerman-Sagie, Tally; Birk, Ohad S