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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

The Lancet (British edition), 2016-12, Vol.388 (10063), p.3017-3026

2016

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Nature genetics, 2012-05, Vol.44 (5), p.575-580

2012

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Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

Canadian journal of neurological sciences, 2021-07, Vol.48 (4), p.504-511

2021

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Walker-Warburg syndrome

Orphanet journal of rare diseases, 2006-08, Vol.1 (1), p.29-29, Article 29

2006

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Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada

Journal of child neurology, 2017-03, Vol.32 (3), p.301-307

2017

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

American journal of human genetics, 2016-11, Vol.99 (5), p.1181-1189

2016

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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Journal of child neurology, 2010-12, Vol.25 (12), p.1559-1581

2010

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Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations

Pediatric neurology, 2013-11, Vol.49 (5), p.374-378

2013

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Response

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.394

2016

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Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

Muscle & nerve, 2012-05, Vol.45 (5), p.752-755

2012

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Acute flaccid myelitis: cause, diagnosis, and management

The Lancet (British edition), 2021-01, Vol.397 (10271), p.334-346

2021

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A Source Analysis of the Late Human Auditory Evoked Potentials

Journal of cognitive neuroscience, 1989, Vol.1 (4), p.336-355

1989

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The Canadian Neuromuscular Disease Registry: A National Spinal Muscular Atrophy (SMA) Registry for Real World Evidence (2403)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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The Canadian Neuromuscular Disease Registry: A national spinal muscular atrophy (SMA) registry for real world evidence (4420)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.693-698

2015

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The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children

Ophthalmology (Rochester, Minn.), 2000-03, Vol.107 (3), p.504-510

2000

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The role of defective glycosylation in congenital muscular dystrophy

Glycoconjugate journal, 2003-01, Vol.20 (5), p.291-300

2003

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Clinical characteristics of pediatric myasthenia: a surveillance study

Pediatrics (Evanston), 2013-10, Vol.132 (4), p.e939-e944

2013

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MRI of the cauda equina in CIDP: clinical correlations

Journal of the neurological sciences, 1999-11, Vol.170 (1), p.36-44

1999

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Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating

The Journal of general physiology, 2002-10, Vol.120 (4), p.483-496

2002

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Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

Neuromuscular disorders : NMD, 2022-03, Vol.32 (3), p.206-212

2022

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Response

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.394-394

2016

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Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.394

2016

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Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis

Journal of child neurology, 2020-08, Vol.35 (9), p.600-606

2020

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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Clinical biochemistry, 2003-07, Vol.36 (5), p.339-344

2003

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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

Walker-Warburg syndrome

Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations

Response

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

Acute flaccid myelitis: cause, diagnosis, and management

A Source Analysis of the Late Human Auditory Evoked Potentials

The Canadian Neuromuscular Disease Registry: A National Spinal Muscular Atrophy (SMA) Registry for Real World Evidence (2403)

The Canadian Neuromuscular Disease Registry: A national spinal muscular atrophy (SMA) registry for real world evidence (4420)

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children

The role of defective glycosylation in congenital muscular dystrophy

Clinical characteristics of pediatric myasthenia: a surveillance study

MRI of the cauda equina in CIDP: clinical correlations

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

Response

Response

Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

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