A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference14 articles.
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3. Hereditary motor and sensory neuropathy–Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings;Kalaydjieva;Brain,1998
4. Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation;Luigetti;J Neurol Sci,2014
5. Hereditary motor and sensory neuropathy–Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries;Chandler;Neuromuscul Disord,2000
Cited by 4 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
1. Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria;International Journal of Molecular Sciences;2024-08-21
2. Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease;Molecular and Cellular Biology;2022-07-01
3. A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D;Neurological Sciences;2022-02-11
4. Crystal and solution structure of NDRG1, a membrane‐binding protein linked to myelination and tumour suppression;The FEBS Journal;2021-01-22
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