Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

doi:10.1136/jnnp-2012-303433

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Article

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2013

Gellera Cinzia, Tiloca Cinzia, Del Bo Roberto, Corrado Lucia, Pensato Viviana, Agostini Jennifer, Cereda Cristina, Ratti Antonia, Castellotti Barbara, Corti Stefania, Bagarotti Alessandra, Cagnin Annachiara, Milani Pamela, Gabelli Carlo, Riboldi Giulietta, Mazzini Letizia, Sorarù Gianni, D'Alfonso Sandra, Taroni Franco, Comi Giacomo Pietro, Ticozzi Nicola, Silani Vincenzo

Abstract excerpt

OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly involving cortical and spinal motor neurones. Molecular studies have recently identified different mutations in the ubiquilin-2 (UBQLN2) gene as causative of a familial form of X-linked ALS, 90% penetrant in women. The aim of our study was to analyse the UBQLN2 gene in a large cohort of patients with familial (FALS) and...

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PMID: 23138764
DOI: 10.1136/jnnp-2012-303433

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UBQLN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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