Lista de obras - William Sproviero - Dominio Público Uruguay

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

artículo científico publicado en 2017

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

artículo científico publicado en 2019

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

artículo científico publicado en 2018

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

scientific article published on 27 April 2019

Detection of long repeat expansions from PCR-free whole-genome sequence data

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

artículo científico publicado en 2018

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

artículo científico publicado en 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease

artículo científico publicado en 2010

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

artículo científico publicado en 2013

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

artículo científico publicado en 2012

Telomere length is greater in ALS than in controls: a whole genome sequencing study

artículo científico publicado en 2019

Lista de obras de William Sproviero

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

Detection of long repeat expansions from PCR-free whole-genome sequence data

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

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

Telomere length is greater in ALS than in controls: a whole genome sequencing study

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The multistep hypothesis of ALS revisited: The role of genetic mutations