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

Genetic analysis of neurodegenerative diseases

神经退行性疾病的基因分析

Grassano, Maurizio; Schindler, Alice B; Traynor, Bryan J; Scholz, Sonja W

CSF and blood neuronal injury biomarkers in spinal bulbar muscular atrophy and amyotrophic lateral sclerosis 4

脊髓延髓肌萎缩症和肌萎缩侧索硬化症4中脑脊液和血液神经元损伤生物标志物

Shahim, Pashtun; AlQahtani, Abdullah; Kokkinis, Angela D; Kazmi, Narjis; Ezuma-Ngwu, Marie; Misra, Jahan; Harmison, George; Benoit, Nicole; Jones, Melina; Howe, Elizabeth; Schindler, Alice B; Joe, Galen O; Grunseich, Christopher

Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.

对 CHCHD10 R15L 大家族中的 ALS 进行临床、神经病理学和生化特征分析。

Kwan Justin Y, Lantz Christian I, Korobeynikov Vlad A, Snyder Allison, Huang Xiaoping, Haselhuhn Taryn, Dore Katherine N, Madruga Angelo, Danielian Laura E, Schindler Alice B, Chia Ruth, Rasheed Memoona, Crook Jody, Szabo Marcell, Portley Makayla, Sherer Carolyn M, King Monique C, Huang Tzu-Hsiang, Kosa Peter, Bielekova Bibiana, Ward Michael E, Grunseich Chris, Shneider Neil A, Traynor Bryan J, Narendra Derek P

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.

PRKN 杂合突变很常见,但不会增加患帕金森病的风险

Zhu William, Huang Xiaoping, Yoon Esther, Bandres-Ciga Sara, Blauwendraat Cornelis, Billingsley Kimberly J, Cade Joshua H, Wu Beverly P, Williams Victoria H, Schindler Alice B, Brooks Janet, Gibbs J Raphael, Hernandez Dena G, Ehrlich Debra, Singleton Andrew B, Narendra Derek P

α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

遗传性帕金森病中交感神经纤维的α-突触核蛋白沉积

Isonaka, Risa; Goldstein, David S; Zhu, William; Yoon, Esther; Ehrlich, Debra; Schindler, Alice B; Kokkinis, Angela D; Sabir, Marya S; Scholz, Sonja W; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Gonzalez-Alegre, Pedro; Lopez, Grisel; Sidransky, Ellen; Narendra, Derek P

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.

肌萎缩侧索硬化症中 Senataxin 突变的临床和分子方面 4.

Grunseich Christopher, Patankar Aneesh, Amaya Joshua, Watts Jason A, Li Dongjun, Ramirez Prisila, Schindler Alice B, Fischbeck Kenneth H, Cheung Vivian G

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

DJ1 患者合并帕金森病、白内障和听力丧失,并出现周围性突触核蛋白病

Narendra, Derek P; Isonaka, Risa; Nguyen, Diana; Schindler, Alice B; Kokkinis, Angela D; Ehrlich, Debra; Bardakjian, Tanya M; Goldstein, David S; Liang, Tsao-Wei; Gonzalez-Alegre, Pedro

Nucleocytoplasmic transport defect in a North American patient with ALS8

一名患有ALS8的北美患者的核质转运缺陷

Guber, Robert D; Schindler, Alice B; Budron, Maher S; Chen, Ke-Lian; Li, Yuebing; Fischbeck, Kenneth H; Grunseich, Christopher

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

夏科-马里-图斯病4C型:新突变、临床表现和诊断挑战

Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O; Grunseich, Christopher; Baloui, Hasna; Nnamdi-Emeratom, Chioma; Schindler, Alice B; Heiman-Patterson, Terry; Chrast, Roman; Shy, Michael E

Patient-identified impact of symptoms in spinal and bulbar muscular atrophy

患者对脊髓延髓肌萎缩症症状影响的自我评估

Guber, Robert D; Kokkinis, Angela D; Schindler, Alice B; Bendixen, Roxanna M; Heatwole, Chad R; Fischbeck, Kenneth H; Grunseich, Christopher