Lv11
64 积分 2025-03-13 加入
Clinical Approach to the Diagnostic Evaluation of Hereditary and Acquired Neuromuscular Diseases
26天前
已完结
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage
1个月前
已完结
The Roussy-L�vy family: From the original description to the gene
3个月前
已完结
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
5个月前
已完结
Multifaceted fusion defects converge on altered mitochondrial distribution and increased mutant mitofusin level in CMT2A models
5个月前
已完结
A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing
5个月前
已完结
Electrophysiological evaluation in 4 patients with diabetic pseudotabes
5个月前
已关闭
MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
6个月前
已完结
Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy
7个月前
已完结
Control of mitochondrial morphology by a human mitofusin
8个月前
已完结
皖公网安备34019202002308
