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

LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.

LXR激动剂可挽救SPG3A患者特异性iPSC衍生神经元的突触功能障碍和退化。

Thakur Gitika, Dhanukate Rutuja, Mou Yongchao, Kunhiraman Priya, Khadilkar Archana, Srivastava Siddharth, Alecu Julian E, Ebrahimi-Fakhari Darius, Chen Zhenyu, Blackstone Craig, Li Xue-Jun

Small peptide P110 mitigates axonal degeneration of SPG15 patient iPSC-derived neurons by targeting mitochondrial dysfunction.

小肽 P110 通过靶向线粒体功能障碍来减轻 SPG15 患者 iPSC 衍生神经元的轴突变性。

Tamilselvam Bavavarshini, Thakur Gitika, Mathew Ruth, Chai Eric, Lopez Jose, Chen Zhenyu, Zhan Weihai, Blackstone Craig, Li Xue-Jun

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

遗传性神经病通路分析揭示轴突退化的潜在共同机制

Cashman, Christopher R; Blackstone, Craig; Sadjadi, Reza

The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia

痉挛性截瘫卓越研究中心网络(SP-CERN):遗传性痉挛性截瘫临床试验准备情况

Schierbaum, Luca; Quiroz, Vicente; Yang, Kathryn; Rong, Joshua; Battaglia, Nicole; Zubair, Umar; Christie, Michelle; Davis, Marie; Calame, Daniel; Danzi, Matt C; Finkel, Richard S; Burns, Joshua; Gilbert, Donald L; Mingbunjerdsuk, Dararat; Pruitt, Greg; Pruitt, Norma; Cobb, John; Sadjadi, Reza; Cashman, Christopher R; Blackstone, Craig; Fink, John K; Shy, Michael E; Zuchner, Stephan; Ebrahimi-Fakhari, Darius

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives

社论:遗传性痉挛性截瘫的转化研究:填补诊断空白和治疗前景

Martinuzzi, Andrea; Blackstone, Craig; Stevanin, Giovanni

Motion of VAPB molecules reveals ER-mitochondria contact site subdomains

VAPB分子的运动揭示了内质网-线粒体接触位点亚结构域

Obara, Christopher J; Nixon-Abell, Jonathon; Moore, Andrew S; Riccio, Federica; Hoffman, David P; Shtengel, Gleb; Xu, C Shan; Schaefer, Kathy; Pasolli, H Amalia; Masson, Jean-Baptiste; Hess, Harald F; Calderon, Christopher P; Blackstone, Craig; Lippincott-Schwartz, Jennifer

Getting to the heart of Lewy body disease

深入了解路易体病

Goodheart, Anna E; Blackstone, Craig

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

ZFYVE26相关遗传性痉挛性截瘫的临床和分子谱:SPG15

Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; Neuser, Sonja; Davis, Marie Y; Yoshikura, Nobuaki; Futamura, Naonobu; Takeuchi, Tomoya; Nabatame, Shin; Ishiura, Hiroyuki; Tsuji, Shoji; Aldeen, Huda Shujaa; Cali, Elisa; Rocca, Clarissa; Houlden, Henry; Efthymiou, Stephanie; Assmann, Birgit; Yoon, Grace; Trombetta, Bianca A; Kivisäkk, Pia; Eichler, Florian; Nan, Haitian; Takiyama, Yoshihisa; Tessa, Alessandra; Santorelli, Filippo M; Sahin, Mustafa; Blackstone, Craig; Yang, Edward; Schüle, Rebecca; Ebrahimi-Fakhari, Darius

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations

新发变异导致 HSP-ATL1 (SPG3A) 出现复杂症状,并揭示基因型-表型相关性。

Alecu, Julian E; Saffari, Afshin; Jordan, Catherine; Srivastava, Siddharth; Blackstone, Craig; Ebrahimi-Fakhari, Darius