List of works - William Camu

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

scientific article published on 17 June 2015

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

scientific article

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

scientific article published in November 2009

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

scientific article

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

scientific article published on 28 May 2013

Absence of mutations in the hypoxia response element of VEGF in ALS

scientific article published on 01 December 2003

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis ⬇️

scientific article published on November 11, 2010

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

scientific article published on February 22, 2012

Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis

scientific article published in April 2010

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

scientific article

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

article

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

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

scientific article

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

scientific article

Effect of familial clustering in the genetic screening of 235 French ALS families

scientific article published on 06 January 2021

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

scientific article published in May 2010

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

scientific article published on 27 June 2012

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

scientific article published on 25 January 2012

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis ⬇️

scientific article published on December 16, 2010

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

scientific article published on January 24, 2011

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

scientific article published on 26 February 2013

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

article

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

scientific article published on October 10, 2012

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

scientific article (publication date: December 2003)

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

scientific article published on 01 October 2008

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

scientific article published on 01 March 2018

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 January 2011

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

scientific article published on 24 June 2010

Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis

scientific article published on 18 September 2019

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

scientific article published on 14 March 2012

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1 ⬇️

scientific article published on January 21, 2011

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

article

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

scientific article published in February 2007

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis

scientific article published on 03 May 2012

List of works by William Camu

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

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

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

Absence of mutations in the hypoxia response element of VEGF in ALS

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis ⬇️

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

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

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

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

Effect of familial clustering in the genetic screening of 235 French ALS families

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

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

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis ⬇️

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

Oligogenicity, C9orf72 expansion, and variant severity in ALS

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1 ⬇️

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis