Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew C. J. Wilce et al. · Nature Genetics · 1999 · 401 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 332 citations

Medicine, Genetics, Molecular Genetics +11

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

Kati Donner, Miina Ollikainen, Maaret Ridanpää et al. · Neuromuscular Disorders · 2002 · 226 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt et al. · The American Journal of Human Genetics · 2003 · 210 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

Robert‐Yves Carlier, Pascal Laforêt, Claire Wary et al. · Neuromuscular Disorders · 2011 · 158 citations

Medicine, Neurology, Radiology +10