Lv11
66 积分 2025-03-13 加入
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage
5小时前
已完结
The Roussy-L�vy family: From the original description to the gene
1个月前
已完结
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
3个月前
已完结
Multifaceted fusion defects converge on altered mitochondrial distribution and increased mutant mitofusin level in CMT2A models
3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
3个月前
已完结
Electrophysiological evaluation in 4 patients with diabetic pseudotabes
3个月前
已关闭
MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
4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
6个月前
已完结
Control of mitochondrial morphology by a human mitofusin
6个月前
已完结
Neuropathy
7个月前
已完结
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