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Emery‐Dreifuss muscular dystrophy

Muscle & nerve, 2020-04, Vol.61 (4), p.436-448

2020

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Observational study of spinal muscular atrophy type I and implications for clinical trials

Neurology, 2014-08, Vol.83 (9), p.810-817

2014

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Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy

Neurology, 2024-03, Vol.102 (5), p.e209210

Kang, Peter B

2024

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MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms

The Journal of clinical investigation, 2014-06, Vol.124 (6), p.2651-2667

2014

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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Journal of human genetics, 2017-02, Vol.62 (2), p.243-252

2017

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Distinctive patterns of microRNA expression in primary muscular disorders

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (43), p.17016-17021

2007

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One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

Journal of translational medicine, 2023-10, Vol.21 (1), p.748-748, Article 748

2023

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AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice

Journal of translational medicine, 2024-09, Vol.22 (1), p.824-14, Article 824

2024

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Update on the Genetics of Limb Girdle Muscular Dystrophy

Seminars in pediatric neurology, 2012-12, Vol.19 (4), p.211-218

2012

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The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis

The Journal of experimental medicine, 2005-10, Vol.202 (7), p.987-999

2005

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Juvenile myasthenia gravis

Muscle & nerve, 2009-04, Vol.39 (4), p.423-431

2009

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POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Human molecular genetics, 2014-11, Vol.23 (21), p.5781-5792

2014

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Phenotypic implications of pathogenic variant types in Pompe disease

Journal of human genetics, 2021-11, Vol.66 (11), p.1089-1099

2021

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hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies

Muscle & nerve, 2021-06, Vol.63 (6), p.928-940

2021

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The ties that bind: functional clusters in limb-girdle muscular dystrophy

Skeletal muscle, 2020-07, Vol.10 (1), p.1-22, Article 22

2020

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Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Human molecular genetics, 2019-07, Vol.28 (14), p.2365-2377

2019

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Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV- TAZ Gene Delivery

International journal of molecular sciences, 2019-07, Vol.20 (14), p.3416

2019

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Childhood chronic inflammatory demyelinating polyradiculoneuropathy: Combined analysis of a large cohort and eleven published series

Neuromuscular disorders : NMD, 2013-02, Vol.23 (2), p.103-111

2013

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Pediatric Neuromuscular Diseases

Pediatric neurology, 2023-12, Vol.149, p.1-14

2023

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Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey

Pediatric neurology, 2017-01, Vol.66, p.89-95

2017

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Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents

The Journal of pediatrics, 2016-11, Vol.178, p.227-232

2016

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Silencing of drpr Leads to Muscle and Brain Degeneration in Adult Drosophila

The American journal of pathology, 2014-10, Vol.184 (10), p.2653-2661

2014

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Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy

FEBS letters, 2013-09, Vol.587 (18), p.2952-2957

2013

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Growth charts in Cockayne syndrome type 1 and type 2

European journal of medical genetics, 2021-01, Vol.64 (1), p.104105-104105, Article 104105

2021

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Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

Clinical epigenetics, 2014-10, Vol.6 (1), p.23-23, Article 23

2014

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Emery‐Dreifuss muscular dystrophy

Observational study of spinal muscular atrophy type I and implications for clinical trials

Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Distinctive patterns of microRNA expression in primary muscular disorders

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice

Update on the Genetics of Limb Girdle Muscular Dystrophy

The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis

Juvenile myasthenia gravis

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Phenotypic implications of pathogenic variant types in Pompe disease

hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies

The ties that bind: functional clusters in limb-girdle muscular dystrophy

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV- TAZ Gene Delivery

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: Combined analysis of a large cohort and eleven published series

Pediatric Neuromuscular Diseases

Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents

Silencing of drpr Leads to Muscle and Brain Degeneration in Adult Drosophila

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy

Growth charts in Cockayne syndrome type 1 and type 2

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

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