List of works - Geneviève Bernard

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

scientific article

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

scientific article published in July 2012

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

scientific article

Abnormal myelination in ring chromosome 18 syndrome

scientific article published on 30 January 2012

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

scientific article

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

scientific article

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

scientific article published on 7 October 2013

Channelopathies: a review

scientific article published on February 2008

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

scientific article

Consensus statement on preventive and symptomatic care of leukodystrophy patients

scientific article published on 27 December 2014

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

Diversity of ARSACS mutations in French-Canadians

scientific article

Exosomes Induce Fibroblast Differentiation into Cancer-associated Fibroblasts through TGFβ Signaling

scientific article published on 10 April 2018

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

scientific article published on 10 February 2017

More than hypomyelination in Pol-III disorder

scientific article published on January 2013

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

scientific article published on 25 January 2013

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

scientific article

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

scientific article

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

scientific article published on 7 November 2014

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

scientific article published on 11 August 2015

POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 8 December 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

scientific article

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

scientific article published on 30 August 2017

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

scientific article published on 7 July 2015

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

scientific article published on 27 October 2011

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

scientific article published on 20 August 2017

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

scientific article published on 24 October 2014

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

scientific article

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

scientific article published on 18 August 2015

Vanishing white matter disease in French-Canadian patients from Quebec

scientific article

List of works by Geneviève Bernard

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Abnormal myelination in ring chromosome 18 syndrome

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

Channelopathies: a review

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Diffuse hypomyelination is not obligate for POLR3-related disorders

Disease specific therapies in leukodystrophies and leukoencephalopathies

Diversity of ARSACS mutations in French-Canadians

Exosomes Induce Fibroblast Differentiation into Cancer-associated Fibroblasts through TGFβ Signaling

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

More than hypomyelination in Pol-III disorder

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

POLR3A variants in hereditary spastic paraplegia and ataxia

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

TUBB4A de novo mutations cause isolated hypomyelination

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Vanishing white matter disease in French-Canadian patients from Quebec