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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Genetics in medicine, 2019-01, Vol.21 (1), p.195-206

2019

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Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Lancet neurology, 2020-06, Vol.19 (6), p.522-532

2020

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Multifocal acquired demyelinating sensory and motor neuropathy presenting with a unilateral radial neuropathy

Muscle & nerve, 2022-05, Vol.65 (5), p.E21-E23

2022

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Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

Muscle & nerve, 2021-03, Vol.63 (3), p.401-404

2021

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Laryngospasm in amyotrophic lateral sclerosis

Muscle & nerve, 2022-04, Vol.65 (4), p.400-404

2022

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Pseudohypertrophy of the extensor digitorum brevis in diabetic polyneuropathy

Muscle & nerve, 2021-10, Vol.64 (4), p.E20-E22

2021

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Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians

Annals of neurology, 2020-04, Vol.87 (4), p.568-583

2020

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Impact of disuse muscular atrophy on the compound muscle action potential

Muscle & nerve, 2020-01, Vol.61 (1), p.58-62

2020

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Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Human mutation, 2014-01, Vol.35 (1), p.45-49

2014

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.67-67, Article 67

2012

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Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Clinical genetics, 2021-05, Vol.99 (5), p.746-748

2021

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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1519-1532

2019

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Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy

Scientific reports, 2017-10, Vol.7 (1), p.13859-15, Article 13859

2017

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The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of clinical and translational neurology, 2022-12, Vol.9 (12), p.1941-1952

2022

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Cardiac amyloidosis phenotype associated with a Glu89Lys transthyretin mutation

Canadian journal of cardiology, 2017-06, Vol.33 (6), p.830.e5-830.e7

2017

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Recent Advances in the Genetic Etiology of Brain Malformations

Current neurology and neuroscience reports, 2013-08, Vol.13 (8), p.364-364, Article 364

2013

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The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

Neuropediatrics, 2017-08, Vol.48 (4), p.233

2017

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Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review

PloS one, 2024-07, Vol.19 (7), p.e0307144

2024

Volltextzugriff (PDF)

MYO-MRI diagnostic protocols in genetic myopathies

Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.827-841

2019

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Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review

BMC cancer, 2019-11, Vol.19 (1), p.1149-1149, Article 1149

2019

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Correction: Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

PloS one, 2020-12, Vol.15 (12), p.e0243490-e0243490

2020

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Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

PloS one, 2020-04, Vol.15 (4), p.e0231502-e0231502

2020

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Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Human mutation, 2014-01, Vol.35 (1), p.45-49

2014

Volltextzugriff (PDF)

Neurolymphomatosis of the Brachial Plexus and its Branches: Case Series and Literature Review

Canadian journal of neurological sciences, 2018-03, Vol.45 (2), p.137-143

2018

Volltextzugriff (PDF)

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy

Muscle & nerve, 2016-12, Vol.54 (6), p.1055-1058

2016

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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Multifocal acquired demyelinating sensory and motor neuropathy presenting with a unilateral radial neuropathy

Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

Laryngospasm in amyotrophic lateral sclerosis

Pseudohypertrophy of the extensor digitorum brevis in diabetic polyneuropathy

Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians

Impact of disuse muscular atrophy on the compound muscle action potential

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Cardiac amyloidosis phenotype associated with a Glu89Lys transthyretin mutation

Recent Advances in the Genetic Etiology of Brain Malformations

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review

MYO-MRI diagnostic protocols in genetic myopathies

Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review

Correction: Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Neurolymphomatosis of the Brachial Plexus and its Branches: Case Series and Literature Review

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy

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