Pinki Munot
6PUBLICATIONS
77CO-AUTHORS
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Publications (6)
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|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 COL6A1 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
|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 RYR1-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
2 joint publications
James Mahon
2 joint publications
Rachel Houten
2 joint publications
Sophie Beale
2 joint publications
Angela Boland
2 joint publications
Yenal Dundar
2 joint publications
Anna Sarkozy
