List of works - Hussein Daoud

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 role for ubiquilin 2 mutations in neurodegeneration ⬇️

scientific article published on October 11, 2011

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Acute Coronary Syndrome (ACS) due to Coronary Artery Embolism in a Patient with Atrial Fibrillation

scientific article published on 10 October 2019

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

scientific article published in August 2010

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

article

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

scientific article published on 9 July 2009

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

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

scientific article published on 4 November 2014

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens ⬇️

scientific article published on 01 October 2010

Chronic Type A Aortic Dissection: Rare Presentation of Incidental Pericardial Effusion.

scientific article published on 2 May 2019

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

scientific article published on 15 January 2011

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

scientific article

De novo mutations in moderate or severe intellectual disability

scientific article

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

scientific article

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

scientific article

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

scientific article published on 22 July 2015

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

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

scientific article published on 13 October 2009

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

scientific article

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

scientific article published on December 16, 2010

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

scientific article published on 07 August 2015

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

scientific article published on January 24, 2011

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

scientific article published on 22 April 2015

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

scientific article published on December 27, 2012

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

scientific article published on October 10, 2012

No Effect on SOD1 Splicing by TARDP or FUS Mutations ⬇️

scientific article published on March 1, 2011

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

scientific article published in February 2009

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

scientific article published in May 2012

Recent advances in the genetics of amyotrophic lateral sclerosis

scientific article published on May 2009

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

scientific article published on 10 January 2011

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

scientific article published on 03 May 2012

List of works by Hussein Daoud

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 role for ubiquilin 2 mutations in neurodegeneration ⬇️

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Acute Coronary Syndrome (ACS) due to Coronary Artery Embolism in a Patient with Atrial Fibrillation

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

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

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

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

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens ⬇️

Chronic Type A Aortic Dissection: Rare Presentation of Incidental Pericardial Effusion.

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

De novo mutations in moderate or severe intellectual disability

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

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

Exome sequencing reveals SPG11 mutations causing juvenile ALS

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

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

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

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

No Effect on SOD1 Splicing by TARDP or FUS Mutations ⬇️

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

Recent advances in the genetics of amyotrophic lateral sclerosis

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

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