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Article

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2014

Luigetti Marco, Fabrizi Gian Maria, Taioli Federica, Del Grande Alessandra, Lo Monaco Mauro

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Identifiers

PMID: 24844793
DOI: 10.1007/s10072-014-1833-2

Genes

LITAF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.PMID 24844793Read ↗

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.Semantic proximity Read ↗

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.Semantic proximity Read ↗

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Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Semantic proximity Read ↗

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.Semantic proximity Read ↗

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