Autosomal recessive hereditary motor and sensory neuropathy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference32 articles.
1. Autosomal recessive forms of hereditary motor and sensory neuropathy.
2. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
3. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
4. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
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1. A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4;Journal of the Neurological Sciences;2019-07
2. First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities;Neurology India;2015
3. Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing;Genomics, Proteomics & Bioinformatics;2014-10
4. Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia;Journal of Applied Genetics;2013-08-31
5. Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation);NeuroMolecular Medicine;2009-04-19
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