Publications by authors named "Stephanie Robb"

Claim this Profile
C
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.
Jordan Poulos, Martin Samuels, Jacqueline Palace, David Beeson, Stephanie Robb

Brain Commun· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term Natural History of Pediatric Dominant and Recessive -Related Myopathy.
Anna Sarkozy, Mario Sa, Deborah Ridout, Miguel Angel Fernandez-Garcia, Maria Grazia Distefano, Stephanie Robb

Neurology· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Stephanie Robb

Front Pediatr· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Federica Trucco, Deborah Ridout, Joana Domingos, Kate Maresh, Mary Chesshyre, Stephanie Robb

Muscle Nerve· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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].
Pinki Munot, Stephanie A Robb, Erik H Niks, Jacqueline Palace,

Neuromuscul Disord· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Federica Trucco, Joana P Domingos, Chee Geap Tay, Deborah Ridout, Kate Maresh, Stephanie Robb

Chest· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
2
242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1-3 March 2019.
Pinki Munot, Stephanie A Robb, Erik H Niks, Jacqueline Palace,

Neuromuscul Disord· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Paediatric myasthenia gravis: Prognostic factors for drug free remission.
Domizia Vecchio, Sithara Ramdas, Pinki Munot, Matthew Pitt, David Beeson, Stephanie Robb

Neuromuscul Disord· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Pedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Stephanie Robb

Brain· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Stephanie Robb

Neuromuscul Disord· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?
Nahla Alshaikh, Andreas Brunklaus, Tracey Davis, Stephanie A Robb, Ros Quinlivan

Arch Dis Child· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Sarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, Christopher D J Sinclair, Arne Fischmann, Stephanie A Robb

Muscle Nerve· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Clare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, David A Parry, Susan Maxwell, Stephanie Robb

Am J Hum Genet· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
Miriam L Giarrana, Pascal Joset, Heinrich Sticht, Stephanie Robb, Katharina Steindl

Muscle Nerve· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Pedro M Rodríguez Cruz, Jacqueline Palace, Hayley Ramjattan, Sandeep Jayawant, Stephanie A Robb

Neurology· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital myasthenic syndrome caused by mutations in DPAGT.
Andrea Klein, Stephanie Robb, Elisabeth Rushing, Wei-Wei Liu, Kasiaryna Belaya

Neuromuscul Disord· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.
Yael Hacohen, Leslie W Jacobson, Susan Byrne, Fiona Norwood, Abhimanu Lall, Stephanie Robb

Neurol Neuroimmunol Neuroinflamm· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Mariacristina Scoto, Alexander M Rossor, Matthew B Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb

Neurology· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital myopathies: Natural history of a large pediatric cohort.
Irene Colombo, Mariacristina Scoto, Adnan Y Manzur, Stephanie A Robb, Lorenzo Maggi

Neurology· January 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.
Rahul R Singh, S Veronica Tan, Michael G Hanna, Stephanie A Robb, Antonia Clarke

Pediatrics· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Kathryn J Peall, Daniel Lumsden, Rachel Kneen, Rajesh Madhu, Deirdre Peake, Stephanie A Robb

Dev Med Child Neurol· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.
Fiona Norwood, Mandish Dhanjal, Marguerite Hill, Natalie James, Heinz Jungbluth, Stephanie Robb

J Neurol Neurosurg Psychiatry· May 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
In vitro and in vivo demonstration of physically and chemically in situ gelling NIPAAm-based copolymer system.
Bae Hoon Lee, Hanin H Beart, Vicki Cheng, Ryan McLemore, Stephanie A Robb

J Biomater Sci Polym Ed· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Andrea Klein, Matthew C Pitt, John C McHugh, Erik H Niks, Caroline A Sewry, Stephanie A Robb

Neuromuscul Disord· November 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Ros Quinlivan, Satomi Mitsuahashi, Caroline Sewry, Sebahattin Cirak, Chieko Aoyama, Stephanie Robb

Neuromuscul Disord· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis