A. Manzur

Fully Personalised Degenerative Disease Modelling - A Duchenne Muscular Dystrophy Case Study

K. Tsaneva-Atanasova, I. Bamsey, E. Baker, 2022, medRxiv.

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

F. Muntoni, C. Sewry, B. Linnane, 2022, Neuromuscular Disorders.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

J. Louwerens, D. Pareyson, M. Shy, 2017, Neuromuscular Disorders.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline Palace, S. Banka, E. Zanoteli, 2019 .

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

F. Muntoni, H. Jungbluth, T. Cullup, 2012, Neuromuscular Disorders.