M. Tétreault

发表

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

M. Tétreault, E. Bareke, J. Nadaf, 2015, Expert review of molecular diagnostics.

Clinical , biochemical , and genetic features of four patients with short-chain enoyl-CoA hydratase ( ECHS 1 ) deficiency

Reilly, Robert W. Taylor, S. Ferdinandusse, 2018 .

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Robert W. Taylor, S. Ferdinandusse, H. Waterham, 2018, American journal of medical genetics. Part A.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

F. Alkuraya, R. Maas, K. Boycott, 2015, American journal of human genetics.

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

I. Thiffault, B. Brais, B. Banwell, 2006, Brain : a journal of neurology.

Reply: TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.

H. Soreq, M. Strong, L. Shkreta, 2018, Brain : a journal of neurology.

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

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

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

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

B. Brais, G. Blanco, E. Malfatti, 2017, Brain : a journal of neurology.

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

I. Thiffault, J. Bouchard, B. Brais, 2006, Brain : a journal of neurology.

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

A. Vanderver, B. Brais, C. Stevens, 2013, Journal of Medical Genetics.

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

J. Ott, M. Lathrop, M. Tétreault, 2015, Scientific Reports.

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

I. Thiffault, B. Brais, J. Puymirat, 2007, Neurology.

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

L. Zinman, P. Legault, M. Tétreault, 2021, Brain : a journal of neurology.

TDP-43 stabilizes transcripts encoding stress granule protein G3BP1: potential relevance to ALS/FTD

L. Zinman, P. Legault, M. Tétreault, 2020, bioRxiv.

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

L. Aravind, K. Boycott, T. Hartley, 2015, International journal of cardiology.

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

A. Vanderver, I. Thiffault, J. Bouchard, 2010, neurogenetics.

A. Vanderver, R. Taft, C. V. van Karnebeek, 2017, Pediatric neurology.

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

M. Tétreault, E. Bareke, J. Karamchandani, 2022, NPJ genomic medicine.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

K. Gripp, K. Boycott, T. Hartley, 2014, American journal of human genetics.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Fatty acids derived from the probiotic Lacticaseibacillus rhamnosus HA-114 suppress age-dependent neurodegeneration

M. Tétreault, E. Bareke, E. Guitard, 2022, Communications Biology.

E. Sell, K. Boycott, M. Tétreault, 2015, European Journal of Human Genetics.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

K. Boycott, K. Kernohan, M. Tétreault, 2015, Human molecular genetics.

Founder Mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster

I. Thiffault, B. Brais, M. Tétreault, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

M. Tétreault, C. Mounier, F. Pratesi, 2022, Nature Communications.

Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

M. Tarnopolsky, K. Boycott, D. Bulman, 2015, Clinical genetics.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

M. Tétreault, J. Nadaf, J. Majewski, 2015, American journal of human genetics.

Probiotic Lacticaseibacillus rhamnosus HA-114 suppresses age-dependent neurodegeneration via mitochondrial beta-oxidation

M. Tétreault, E. Bareke, E. Guitard, 2020 .

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Lijia Huang, K. Boycott, D. Bulman, 2017, Human molecular genetics.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.

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.

K. Kernohan, T. Hartley, M. Tétreault, 2017, European journal of medical genetics.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical genetics.

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

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Integrated immunovirological profiling validates plasma SARS-CoV-2 RNA as an early predictor of COVID-19 mortality

J. Richards, D. Kaufmann, A. Dyachenko, 2021, medRxiv.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

E. Puffenberger, R. Hegele, S. Küry, 2015, American journal of human genetics.

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

M. Tétreault, E. Bareke, J. Karamchandani, 2022, npj Genomic Medicine.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

K. Boycott, M. Tétreault, J. Majewski, 2015, Human molecular genetics.

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Jean-Pierre Bouchard, Hugo J. Bellen, Geneviève Bernard, 2012, PLoS biology.

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

K. Boycott, Ruobing Zou, K. Kernohan, 2016, Molecular genetics & genomic medicine.

Estimated prevalence of Niemann–Pick type C disease in Quebec

M. Tétreault, C. Bhérer, L. Touma, 2021, Scientific Reports.

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

P. Chanson, A. Tabarin, R. Scharfmann, 2021, The lancet. Diabetes & endocrinology.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Neil A. Miller, E. Farrow, I. Thiffault, 2018, Brain : a journal of neurology.

XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

Keith W. Caldecott, Kevin Staras, Limei Ju, 2016, Nature.

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

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

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

Lijia Huang, K. Boycott, D. Bulman, 2015, Neuromuscular Disorders.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

I. Thiffault, J. Bouchard, B. Brais, 2007 .

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

E. Shoubridge, B. Brais, K. Boycott, 2016, Brain : a journal of neurology.

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

J. Bouchard, B. Brais, G. Rouleau, 2015, European Journal of Human Genetics.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

A. Vanderver, M. Gambello, M. Tétreault, 2018, Clinical genetics.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

E. Shoubridge, B. Brais, Woranontee Weraarpachai, 2017, neurogenetics.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Lijia Huang, K. Boycott, T. Hartley, 2016, American journal of medical genetics. Part A.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

B. Brais, K. Boycott, M. Tétreault, 2016, neurogenetics.

Diversity of ARSACS Mutations in French-Canadians

A. Montpetit, I. Thiffault, B. Brais, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Usage of Genetic Panels in an Adult Epilepsy Clinic

M. Tétreault, D. Nguyen, P. Cossette, 2022, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

novel de novo mutation in PRKCE ( Protein Kinase C ) impairing TORC 2 dependent AKT ɛ activation

K. Boycott, T. Hartley, M. Tétreault, 2019 .

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation

K. Boycott, T. Hartley, M. Tétreault, 2017, Human molecular genetics.

TACH Leukodystrophy: Locus Refinement to Chromosome 10q22.3-23.1

R. Schiffmann, I. Thiffault, B. Brais, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

M. Tétreault, N. Sondheimer, K. Caldecott, 2019, Neurology: Genetics.

Novel NALCN variant linked to temporal lobe epilepsy

M. Tétreault, D. Nguyen, P. Cossette, 2023, American journal of medical genetics. Part A.

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

V. Chau, I. Thiffault, B. Brais, 2008, Neuromuscular Disorders.

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli

M. Bushnell, I. Thiffault, B. Brais, 2009, The Journal of Neuroscience.

Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?

A. Desautels, J. Montplaisir, Y. Dauvilliers, 2021, Journal of sleep research.

A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing

B. Brais, M. Tétreault, E. Bareke, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

M. Tarnopolsky, M. Tétreault, L. Brady, 2017, Neurology.

Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch–Nyhan syndrome

J. Bloch, E. Pralong, J. Villemure, 2005, Neurophysiologie Clinique/Clinical Neurophysiology.

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

B. Brais, K. Gehring, Michael A. Gonzalez, 2015, Brain : a journal of neurology.

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

M. Tétreault, L. Touma, A. Duquette, 2021, Scientific Reports.