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Article

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Journal of neurology - 1 May 2014

Schabhüttl Maria, Wieland Thomas, Senderek Jan, Baets Jonathan, Timmerman Vincent, De Jonghe Peter, Reilly Mary M, Stieglbauer Karl, Laich Eva, Windhager Reinhard, Erwa Wolfgang, Trajanoski Slave, Strom Tim M, Auer-Grumbach Michaela

Abstract excerpt

Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24627108
DOI: 10.1007/s00415-014-7289-8

Genes

ITPR3
KLHL13
PEX12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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