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Article

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Neurology - 4 Nov 2014

Gess Burkhard, Auer-Grumbach Michaela, Schirmacher Anja, Strom Tim, Zitzelsberger Manuela, Rudnik-Schöneborn Sabine, Röhr Dominik, Halfter Hartmut, Young Peter, Senderek Jan

Abstract excerpt

OBJECTIVES: To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies. METHODS: Patients were screened for mutations by genome-wide or targeted linkage and homozygosity studies, whole-exome sequencing, and Sanger sequencing. RNA and protein studies of skin fibroblasts were used for functional characterization. RESULTS: We describe 2...

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PMID: 25274842
DOI: 10.1212/WNL.0000000000000966

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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