Rahul Phadke
6PUBLICATIONS
81CO-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
|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Sandra Coppens, Nicolas Deconinck, Patricia Sullivan
|Nov 29, 2022
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos
|Feb 17, 2022
Ageing contributes to phenotype transition in a mouse model of periodic paralysis.Karen J Suetterlin, S Veronica Tan, Roope Mannikko
|Oct 14, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.Pinki Munot, Nadine McCrea, Silvia Torelli
|Aug 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.Nandaki Keshavan, Jose Abdenur, Glenn Anderson
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Frequent Collaborators
2 joint publications
Francesco Muntoni
2 joint publications
Michael G Hanna
2 joint publications
Emma Matthews
1 joint publications
Anna Sarkozy
1 joint publications
Jose Abdenur
1 joint publications
Anupam Chakrapani
1 joint publications
Marta C Cohen
1 joint publications
François Feillet
1 joint publications
Carl Fratter
1 joint publications
Mariella Simon
