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Article

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2010

Origone Paola, Caponnetto Claudia, Bandettini Di Poggio Monica, Ghiglione Elisabetta, Bellone Emilia, Ferrandes Giovanna, Mancardi Giovanni Luigi, Mandich Paola

Abstract excerpt

OBJECTIVE: The present study was aimed to enlarge the Italian ALS sample analysed for TARDBP gene mutations. METHODS: Genomic DNA from 47 patients, 70 FTD patients and 158 controls was extracted from peripheral blood samples according to a standard protocol. The five coding exons (2-6) of the TAR...

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Source

Identifiers

PMID: 19714537
DOI: 10.3109/17482960903165039

Genes

TARDBP
SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19714537-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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