List of works - Viviana Pensato

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

scientific article published on 15 May 2014

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published on 25 May 2011

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

scientific article published on 26 January 2012

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

scientific article published on 2 July 2013

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

scientific article

Amyotrophic lateral sclerosis causes small fiber pathology

scientific article published on 01 February 2016

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

scientific article

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

scientific article published on 14 August 2013

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

scientific article published on 18 March 2015

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

scientific article published on 17 May 2018

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

scientific article

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

scientific article published on 17 July 2017

Early white matter involvement in an infant carrying a novel mutation in ACOX1.

scientific article published on 23 February 2016

Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis

scientific article published on 10 May 2019

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

scientific article published in October 2021

List of works by Viviana Pensato

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Amyotrophic lateral sclerosis causes small fiber pathology

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

Early white matter involvement in an infant carrying a novel mutation in ACOX1.

Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis