Literature DB >> 11354826

Hereditary demyelinating neuropathies: from gene to disease.

C O Hanemann1.   

Abstract

In the first part of this review on hereditary demyelinating neuropathies genotype-phenotype correlations are made in order to suggest a simplified classification of hereditary demyelinating neuropathies. Secondly pathological mechanisms of most common and some rare genotypes are described to elucidate differences, but also to point out common themes in the pathological mechanisms of these disorders. The review focuses on data derived from human studies.

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Year:  2001        PMID: 11354826     DOI: 10.1007/s100480000102

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


  1 in total

1.  Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.

Authors:  Ye Ji Choi; Young Se Hyun; Soo Hyun Nam; Heasoo Koo; Young Bin Hong; Ki Wha Chung; Byung-Ok Choi
Journal:  J Clin Neurol       Date:  2014-11-11       Impact factor: 3.077

  1 in total

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