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.
1. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom;Kalaydjieva;Am J Hum Genet,2000
2. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24;Kalaydjieva;Nat Genet,1996
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 3 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. Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease;Molecular and Cellular Biology;2022-07-01
2. A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D;Neurological Sciences;2022-02-11
3. 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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