Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation-Reference-Cited by-同舟云学术

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Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

Published:2014-08-15 Issue:13 Volume:83 Page:1217-1218
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Di Bella D.,Pareyson D.,Savoiardo M.,Farina L.,Ciano C.,Caldarazzo S.,Sagnelli A.,Bonato S.,Nava S.,Bresolin N.,Tedeschi G.,Taroni F.,Salsano E.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

2. Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy;Frontiers in Genetics;2023-11-09

3. Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia;Brain Communications;2023-10-17

4. Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42;Nature Communications;2023-06-09

5. CLCN2‐Related Leukoencephalopathy in Two Unrelated Patients Due to Novel Variants;Movement Disorders Clinical Practice;2023-05-31

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