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List of works by Veronique Belzil

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

scientific article published on 28 November 2010

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

scientific article published in November 2009

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

scientific article published on February 22, 2012

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 01 September 2012

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

scientific article

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

scientific article

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Exome sequencing reveals SPG11 mutations causing juvenile ALS

scientific article published on 10 December 2011

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

scientific article published on 27 June 2012

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

scientific article published on January 24, 2011

No Effect on SOD1 Splicing by TARDP or FUS Mutations ⬇️

scientific article published on March 1, 2011

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

scientific article published in May 2012

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

article

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight: Supplemental figures

article

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