Rachael M. Duff

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry et al. · The American Journal of Human Genetics · 2004 · 227 citations · Full text

Mitochondrial Myopathy, Muscle Function, Skeletal Muscle +8

Airway Microbiota in Severe Asthma and Relationship to Asthma Severity and Phenotypes

Qingling Zhang, Michael J. Cox, Zhike Liang et al. · PLoS ONE · 2016 · 196 citations · Full text

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé et al. · The American Journal of Human Genetics · 2010 · 157 citations · Full text

Genetic Disorder, Genetics, Pathology +5

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman et al. · The American Journal of Human Genetics · 2011 · 140 citations · Full text

Mechanobiology, Filamin C Cause, N-terminal Actin-binding Domain +7

Myosin storage myopathy: Slow skeletal myosin ( <i>MYH7</i> ) mutation in two isolated cases

Nigel G. Laing, Chantal Ceuterick‐de Groote, Danielle E. Dye et al. · Neurology · 2005 · 57 citations