Myopathology of Adult and Paediatric Mitochondrial Diseases

by Rahul Phadke
Published 2017-07-01

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

by Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy
Published 2020-10-01

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

by Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke
Published 2020-04-01

Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

by Elizabeth Stevens, Silvia Torelli, Lucy Feng, Rahul Phadke, Maggie C Walter, Peter Schneiderat, Ayad Eddaoudi, Caroline A Sewry, Francesco Muntoni
Published 2013-01-01

Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness.

by Neil E Hill, Kevin G Murphy, Saima Saeed, Rahul Phadke, Darren Chambers, Duncan R Wilson, Stephen J Brett, Mervyn Singer
Published 2017-01-01

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

by Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Published 2018-01-01

Ageing contributes to phenotype transition in a mouse model of periodic paralysis

by Karen J. Suetterlin, S. Veronica Tan, Roope Mannikko, Rahul Phadke, Michael Orford, Simon Eaton, Avan A. Sayer, Miranda D. Grounds, Emma Matthews, Linda Greensmith, Michael G. Hanna
Published 2021-07-01

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

by Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Published 2021-01-01

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

by Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, Slawomir Wantuch, Daniel Stuckey, Derek Burke, Helen Prunty, Rahul Phadke, Darren Chambers, Armando Partida-Gaytan, Diego Leon-Rico, Neelam Panchal, Kathryn Whitmore, Miguel Calero, Sara Benedetti, Giorgia Santilli, Adrian J. Thrasher, H. Bobby Gaspar
Published 2020-09-01