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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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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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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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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.233-241

2017

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Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy

Neurology, 2018-10, Vol.91 (18)

2018

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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

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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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Teaching Video Neuro Images : Trapezius muscle hypertrophy in multifocal motor neuropathy

Neurology, 2017-08, Vol.89 (7)

2017

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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

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Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia

Neurology, 2016-04, Vol.86 (15), p.1464-1465

2016

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Marked enlargement of neck circumference from nerve hypertrophy in CIDP

Neurology, 2016-07, Vol.87 (4), p.442-442

2016

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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.143-143, Article 143

2022

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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Clinical epigenetics, 2016-09, Vol.8 (1), p.91-91, Article 91

2016

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Isolated Internuclear Ophthalmoplegia as an Embolic Complication of Transcatheter Aortic Valve Implantation

Curēus (Palo Alto, CA), 2022-12

2022

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Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Current Neurology and Neuroscience Reports, 2015-09, Vol.15 (9), p.64-64, Article 64

2015

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Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal

JAMA neurology, 2016-04, Vol.73 (4), p.477

2016

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Combined isolated trigeminal and facial neuropathies from perineural invasion by squamous cell carcinoma: A case series and review of the literature

Journal of clinical neuroscience, 2017-01, Vol.35, p.5-12

2017

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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4-e5

2019

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Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration

Neuropsychology, 2017-03, Vol.31 (3), p.292-303

2017

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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

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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

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

Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy

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

Teaching Video Neuro Images : Trapezius muscle hypertrophy in multifocal motor neuropathy

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

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia

Marked enlargement of neck circumference from nerve hypertrophy in CIDP

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Isolated Internuclear Ophthalmoplegia as an Embolic Complication of Transcatheter Aortic Valve Implantation

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal

Combined isolated trigeminal and facial neuropathies from perineural invasion by squamous cell carcinoma: A case series and review of the literature

15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration

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