Stephanie A. Robb

Great Ormond Street Hospital
Strete, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 34 publications

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Journal: Neurology. Genetics

Published: September 26, 2025

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Journal: Neurology

Published: November 29, 2022

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Journal: Brain communications

Published: September 30, 2022

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

Journal: Frontiers in pediatrics

Published: April 01, 2022

Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.

Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.

Journal: Muscle & nerve

Published: April 28, 2021

Corrigendum to "Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1-3 March 2019" [Neuromuscular Disorders 30 (2020) 254-264].

Corrigendum to "Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1-3 March 2019" [Neuromuscular Disorders 30 (2020) 254-264].

Journal: Neuromuscular disorders : NMD

Published: February 19, 2021

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1-3 March 2019.

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1-3 March 2019.

Journal: Neuromuscular disorders : NMD

Published: January 15, 2020

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.

Journal: Chest

Published: December 02, 2019

Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Journal: Neuromuscular disorders : NMD

Published: July 04, 2019

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Journal: Brain : a journal of neurology

Published: December 17, 2018

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Journal: Neuromuscular disorders : NMD

Published: February 09, 2017

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Journal: American journal of human genetics

Published: September 02, 2015

Showing 1-12 of 34

Last Updated: 09/26/2026