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Spinal Muscular Atrophy

Neurologic clinics, 2015-11, Vol.33 (4), p.831-846

2015

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Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Muscle & nerve, 2015-02, Vol.51 (2), p.157-167

2015

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Review of the Diagnosis and Treatment of Periodic Paralysis

Muscle & nerve, 2018-04, Vol.57 (4), p.522-530

2018

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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Neurology, 2016-11, Vol.87 (20), p.2123

2016

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Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

Lancet neurology, 2015-02, Vol.14 (2), p.153-161

2015

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Consensus treatment recommendations for late-onset Pompe disease

Muscle & nerve, 2012-03, Vol.45 (3), p.319-333

2012

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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

American journal of human genetics, 2009-09, Vol.85 (3), p.408-413

2009

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Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.39-39, Article 39

2017

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Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.52-52, Article 52

2017

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The Limb-Girdle Muscular Dystrophies

Neurologic clinics, 2014-08, Vol.32 (3), p.729-749

2014

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Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Annals of neurology, 2015-05, Vol.77 (5), p.840-850

2015

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QMG and MG‐ADL correlations: Study of eculizumab treatment of myasthenia gravis

Muscle & nerve, 2017-08, Vol.56 (2), p.328-330

2017

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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.544

2009

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Phase II open label study of valproic acid in spinal muscular atrophy

PloS one, 2009-05, Vol.4 (5), p.e5268-e5268

2009

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Stabilization of Early Duchenne Cardiomyopathy With Aldosterone Inhibition: Results of the Multicenter AIDMD Trial

Journal of the American Heart Association, 2019-10, Vol.8 (19), p.e013501

2019

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Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality

Journal of cardiovascular magnetic resonance, 2019-05, Vol.21 (1), p.26-26, Article 26

2019

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Role of disease severity, illness perceptions, and mood on quality of life in muscle disease

Muscle & nerve, 2012-09, Vol.46 (3), p.351-359

2012

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Peripheral Nerve Society Guideline on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary

Journal of the peripheral nervous system, 2010-09, Vol.15 (3), p.176-184

2010

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Prognosis of acute compressive radial neuropathy

Muscle & nerve, 2012-06, Vol.45 (6), p.893-894

2012

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The Neuropathies of Vasculitis

Neurologic clinics, 2013-05, Vol.31 (2), p.557-595

2013

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Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)

Neurology, 2018-09, Vol.91 (13), p.e1206

2018

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Lambert-Eaton Syndrome, an Unrecognized Treatable Pediatric Neuromuscular Disorder: Three Patients and Literature Review

Pediatric neurology, 2014, Vol.50 (1), p.11-17

2014

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Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy

Pediatric neurology, 2019-09, Vol.98, p.39-45

2019

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Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1460-n/a

2020

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Spinal Muscular Atrophy

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Review of the Diagnosis and Treatment of Periodic Paralysis

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

Consensus treatment recommendations for late-onset Pompe disease

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

The Limb-Girdle Muscular Dystrophies

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

QMG and MG‐ADL correlations: Study of eculizumab treatment of myasthenia gravis

Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Phase II open label study of valproic acid in spinal muscular atrophy

Stabilization of Early Duchenne Cardiomyopathy With Aldosterone Inhibition: Results of the Multicenter AIDMD Trial

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality

Role of disease severity, illness perceptions, and mood on quality of life in muscle disease

Peripheral Nerve Society Guideline on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

Prognosis of acute compressive radial neuropathy

The Neuropathies of Vasculitis

Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)

Lambert-Eaton Syndrome, an Unrecognized Treatable Pediatric Neuromuscular Disorder: Three Patients and Literature Review

Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

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