Pinki Munot

6PUBLICATIONS
77CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsAvionicsInfant and child healthNeural engineering
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Publications (6)

|Mar 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Gianpaolo Cicala, Jo Mccauley, Rahul Phadke

|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Dec 05, 2023
Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.

Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman

|Nov 30, 2023
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Jordan Poulos, Martin Samuels, Jacqueline Palace

|Sep 21, 2023
Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.

Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman

|Aug 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy.

Anna Sarkozy, Mario Sa, Deborah Ridout

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Frequent Collaborators

3 joint publications

Francesco Muntoni

2 joint publications

Marty Chaplin

2 joint publications

Rebecca Bresnahan

2 joint publications

Nigel Fleeman