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Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

Scientific reports, 2021-05, Vol.11 (1), p.10344-10344, Article 10344

2021

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

PLoS biology, 2012-03, Vol.10 (3), p.e1001288-e1001288

2012

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1084-1088

2016

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Usage of Genetic Panels in an Adult Epilepsy Clinic

Canadian journal of neurological sciences, 2023-05, Vol.50 (3), p.411-417

2023

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Novel NALCN variant linked to temporal lobe epilepsy

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1942-1947

2023

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Comparative analysis of methods to reduce activation signature gene expression in PBMCs

Scientific reports, 2023-12, Vol.13 (1), p.23086-23086, Article 23086

2023

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Integration of multi-omics technologies for molecular diagnosis in ataxia patients

Frontiers in genetics, 2024-01, Vol.14, p.1304711-1304711

2024

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Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

BioMed research international, 2016-01, Vol.2016, p.6421039-8

2016

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SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Human molecular genetics, 2017-10, Vol.26 (19), p.3713-3721

2017

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P840: Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients

Genetics in Medicine Open, 2024, Vol.2, p.101751

2024

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.2093-2103

2017

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A MULTI-OMICS APPROACH TO THE IDENTIFICATION OF BIOLOGICAL SIGNATURES IN PARKINSONISMS

IBRO neuroscience reports, 2023-10, Vol.15, p.S920-S920

2023

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A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

European journal of medical genetics, 2018-02, Vol.61 (2), p.89-93

2018

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Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

American journal of human genetics, 2015-10, Vol.97 (4), p.608-615

2015

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Estimated prevalence of Niemann-Pick type C disease in Quebec

Scientific reports, 2021-11, Vol.11 (1), p.22621-22621, Article 22621

2021

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Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Neuromuscular disorders : NMD, 2015-10, Vol.25 (10), p.794-799

2015

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Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer's disease mouse model

Nature communications, 2022-04, Vol.13 (1), p.2061-2061, Article 2061

2022

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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nature (London), 2017-01, Vol.541 (7635), p.87-91

2017

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

American journal of human genetics, 2011-09, Vol.89 (3), p.415-423

2011

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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American journal of human genetics, 2011-11, Vol.89 (5), p.652-655

2011

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Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

American journal of human genetics, 2015-06, Vol.96 (6), p.979-985

2015

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

Journal of medical genetics, 2013-03, Vol.50 (3), p.194-197

2013

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TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia

Brain (London, England : 1878), 2021-12, Vol.144 (11), p.3461-3476

2021

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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1016-1021

2016

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Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

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

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Usage of Genetic Panels in an Adult Epilepsy Clinic

Novel NALCN variant linked to temporal lobe epilepsy

Comparative analysis of methods to reduce activation signature gene expression in PBMCs

Integration of multi-omics technologies for molecular diagnosis in ataxia patients

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

P840: Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients

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

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

A MULTI-OMICS APPROACH TO THE IDENTIFICATION OF BIOLOGICAL SIGNATURES IN PARKINSONISMS

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

Estimated prevalence of Niemann-Pick type C disease in Quebec

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer's disease mouse model

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

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

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

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

TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

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