Lista de obras -

4H Leukodystrophy: Lessons from 3T Imaging.

artículo científico publicado en 2017

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

A treatable new cause of chorea: beta-ketothiolase deficiency

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2013

Ataxia-telangiectasia presenting with a novel immunodeficiency

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Chylomicron retention disease: dystonia as a new clinical feature

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

Hypomyelinating leukodystrophies: translational research progress and prospects

artículo científico publicado en 2014

LINGO1 variants in the French-Canadian population

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Mutations in RNF216 do not cause 4H syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

artículo científico publicado en 2015

POLR3-Related Leukodystrophy

artículo científico publicado en 2017

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

artículo científico publicado en 2015

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?

artículo científico publicado en 2019

Pediatric leukodystrophies: The role of the otolaryngologist.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 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.

artículo científico publicado en 2012

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

Lista de obras de

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.