List of works - Geneviève Bernard

4H Leukodystrophy: Lessons from 3T Imaging.

scientific article

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis

scientific article published on 11 March 2020

A case of secondary dystonia responding to levodopa.

scientific article published on 6 October 2009

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

scientific article published on 21 June 2014

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

scientific article published in March 2012

A treatable new cause of chorea: beta-ketothiolase deficiency

scientific article published on 01 July 2013

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

scientific article published on 06 November 2019

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

Ataxia-telangiectasia presenting with a novel immunodeficiency

scientific article published on 01 May 2012

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 November 2019

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

scientific article published on 28 November 2018

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Chylomicron retention disease: dystonia as a new clinical feature

scientific article published on 01 August 2010

Dosage effect of a dominant CLCN1 mutation: a novel syndrome

scientific article published on 01 February 2008

Dystonia in RNA Polymerase III-Related Leukodystrophy

scientific article published on 09 January 2019

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

scientific article

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Expert opinion and caution are imperative for interpretation of next generation sequencing data.

scientific article published on 12 August 2016

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec

scientific article published on 26 October 2019

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

scientific article published on 09 April 2018

Hypomyelinating leukodystrophies: translational research progress and prospects

scientific article

LINGO1 variants in the French-Canadian population

scientific article (publication date: 11 January 2011)

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

scientific article published on 5 June 2015

Leukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA

scientific article published on 21 March 2019

Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada.

scientific article published on 20 December 2016

Mutations in RNF216 do not cause 4H syndrome

scientific article published on 04 September 2015

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.

scientific article

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

scientific article

POLR3-Related Leukodystrophy

scientific article published on 11 May 2017

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

scientific article

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

scientific article published on 06 June 2019

Pediatric leukodystrophies: The role of the otolaryngologist.

scientific article published on 27 July 2017

Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions.

scientific article published on 31 July 2007

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.

scientific article published in December 2008

Study of cutaneous reflex compensation during locomotion after nerve section in the cat

scientific article published on 28 March 2007

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

scientific article

The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness

scientific article published in 2021

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate. ⬇️

scientific article published on 26 October 2017

The wobbly child: an approach to inherited ataxias

scientific article published on 01 December 2008

Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.

scientific article published on 3 December 2012

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

List of works by Geneviève Bernard

4H Leukodystrophy: Lessons from 3T Imaging.

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis

A case of secondary dystonia responding to levodopa.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

A treatable new cause of chorea: beta-ketothiolase deficiency

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Ataxia-telangiectasia presenting with a novel immunodeficiency

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Chylomicron retention disease: dystonia as a new clinical feature

Dosage effect of a dominant CLCN1 mutation: a novel syndrome

Dystonia in RNA Polymerase III-Related Leukodystrophy

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

Exome sequencing identifies FUS mutations as a cause of essential tremor

Expert opinion and caution are imperative for interpretation of next generation sequencing data.

Genome-wide association study in essential tremor identifies three new loci

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Hypomyelinating leukodystrophies: translational research progress and prospects

LINGO1 variants in the French-Canadian population

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Leukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA

Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada.

Mutations in RNF216 do not cause 4H syndrome

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

POLR3-Related Leukodystrophy

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

Pediatric leukodystrophies: The role of the otolaryngologist.

Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.

Study of cutaneous reflex compensation during locomotion after nerve section in the cat

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate. ⬇️

The wobbly child: an approach to inherited ataxias

Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.

Whole exome sequencing in patients with white matter abnormalities.