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Article

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Journal of neurology - 1 Dec 2015

Citterio Andrea, Arnoldi Alessia, Panzeri Elena, Merlini Luciano, D'Angelo Maria Grazia, Musumeci Olimpia, Toscano Antonio, Bondi Alice, Martinuzzi Andrea, Bresolin Nereo, Bassi Maria Teresa

Abstract excerpt

KIF1A gene encodes the kinesin 1a protein, an axonal motor protein working in cargo transport along neurites. Variants in KIF1A were identified in different forms of neurodegenerative diseases with dominant and recessive inheritance. Homozygous recessive mutations were found in the hereditary sensory and autonomic neuropathy type 2, HSAN2 and in a recessive subtype of hereditary spastic paraparesis, SPG30. De...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26410750
DOI: 10.1007/s00415-015-7899-9

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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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