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Combination molecular therapies for type 1 spinal muscular atrophy

Muscle & nerve, 2020-10, Vol.62 (4), p.550-554

2020

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Measuring the Efficacy of Thymectomy for Pediatric Myasthenia Gravis Across Tertiary Children's Hospitals

Pediatric neurology, 2023-11, Vol.148, p.17-22

2023

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Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

BMC medical genomics, 2023-11, Vol.16 (1), p.1-278, Article 278

2023

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Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease

Journal of managed care & specialty pharmacy, 2018-12, Vol.24 (12-a Suppl), p.S3-S16

2018

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Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond

Muscle & nerve, 2022-06, Vol.65 (6), p.627-629

2022

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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101051, Article 101051

2024

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An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy

Annals of clinical and translational neurology, 2022-06, Vol.9 (6), p.810-818

2022

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Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial

JAMA neurology, 2020-08, Vol.77 (8), p.982

2020

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Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago

Pediatric neurology, 2024-09, Vol.158, p.94-99

2024

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Spinal Muscular Atrophy Diagnosed by Newborn Screening

Pediatric neurology briefs, 2019-12, Vol.33, p.5-5

2019

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Guidelines for Corticosteroid use in Treatment of DMD

Pediatric neurology briefs, 2016-03, Vol.30 (3), p.21-21

Rao, Vamshi K

2016

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Orofacial EMG in Congenital Multiple Cranial Neuropathies

Pediatric neurology briefs, 2015-09, Vol.29 (9), p.68-68

Rao, Vamshi K

2015

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Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean

British journal of clinical pharmacology, 2024-02, Vol.90 (2), p.613-614

2024

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The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic

Muscle & nerve, 2020-07, Vol.62 (1), p.41-45

2020

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Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.53-58

2024

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Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case reports in neurological medicine, 2018-01, Vol.2018 (2018), p.1-5

2018

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Spinal muscular atrophy care in the COVID‐19 pandemic era

Muscle & nerve, 2020-07, Vol.62 (1), p.46-49

2020

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Eculizumab in Adolescent Patients With Refractory Generalized Myasthenia Gravis: A Phase 3, Open-Label, Multicenter Study

Pediatric neurology, 2024-07, Vol.156, p.198-207

2024

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.765-781

2016

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Delay in Diagnosis of Duchenne Muscular Dystrophy

Pediatric neurology briefs, 2015-01, Vol.29 (1), p.5-5

2015

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Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

Journal of neuromuscular diseases, 2022-01, Vol.9 (4), p.493-501

2022

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Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial

Neurology, 2024-03, Vol.102 (5), p.e208112

2024

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PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1270-1275

2019

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Muscle channelopathies: A review

Annals of Child Neurology Society, 2023-12, Vol.1 (4), p.273-288

2023

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Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study

Journal of neuromuscular diseases, 2023-01, Vol.10 (3), p.439-447

2023

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Combination molecular therapies for type 1 spinal muscular atrophy

Measuring the Efficacy of Thymectomy for Pediatric Myasthenia Gravis Across Tertiary Children's Hospitals

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease

Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene

An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial

Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago

Spinal Muscular Atrophy Diagnosed by Newborn Screening

Guidelines for Corticosteroid use in Treatment of DMD

Orofacial EMG in Congenital Multiple Cranial Neuropathies

Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean

The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Spinal muscular atrophy care in the COVID‐19 pandemic era

Eculizumab in Adolescent Patients With Refractory Generalized Myasthenia Gravis: A Phase 3, Open-Label, Multicenter Study

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Delay in Diagnosis of Duchenne Muscular Dystrophy

Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial

PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype

Muscle channelopathies: A review

Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study

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