List of works - Daniel Rochefort

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

scientific article published in Scientific Reports

A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors

scientific article

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

scientific article

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

scientific article published on 4 November 2014

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

scientific article

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

scientific article

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

scientific article published on 22 July 2015

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

article

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

scientific article published on 14 February 2012

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

scientific article (publication date: February 2003)

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

scientific article

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

scientific article published on 19 June 2008

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

scientific article

Investigation of C9orf72 repeat expansions in Parkinson's disease

scientific article published on 27 December 2012

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

scientific article published on 22 November 2019

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

scientific article published in March 2012

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

scientific article published on 14 November 2019

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

scientific article published in August 2003

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

scientific article published on 06 April 2020

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

scientific article (publication date: December 2003)

Mutational analysis of neurotensin in familial restless legs syndrome

scientific article published in January 2004

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on May 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Mutations in DCC cause congenital mirror movements.

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

scientific article

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

scientific article published in January 2003

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

scientific article published on 30 September 2016

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

scientific article published on 22 June 2020

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

scientific article

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

scientific article (publication date: November 2002)

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

scientific article published on 31 July 2020

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

scientific article (publication date: April 2005)

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

scientific article published on 31 May 2011

List of works by Daniel Rochefort

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

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

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

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

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

FOXP1-related intellectual disability syndrome: a recognisable entity

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

Investigation of C9orf72 repeat expansions in Parkinson's disease

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

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

Mutational analysis of neurotensin in familial restless legs syndrome

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in DCC cause congenital mirror movements.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum