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Article

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore, U. and Gordish, H. and Diaz-Manera, J. and James, M.K. and Mayhew, A.G. and Guglieri, M. and Torron, R.F. and Rufibach, L.E. and Feng, J. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Pegoraro, E. and Lowes, L.P. and Mendell, J.R. and Bushby, K. and Straub, V.
Neuromuscular Disorders 31 (4): 265-280. April 2021

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands.
Morgan, J. and Butler-Browne, G. and Muntoni, F. and Patel, K.
Neuromuscular Disorders 29 (9): 704-715. 2019

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh, P. and Meinke, P. and Korfali, N. and Srsen, V. and Robson, M.I. and Wehnert, M. and Schoser, B. and Sewry, C.A. and Schirmer, E.C.
Neuromuscular Disorders 27 (4): 338-351. April 2017

199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.
Bertrand, A.T. and Boennemann, C.G. and Bonne, G.
Neuromuscular Disorders 24 (5): 453-462. May 2014

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
Piercy, R.J. and Zhou, H. and Feng, L. and Pombo, A. and Muntoni, F. and Brown, S.C.
Neuromuscular Disorders 17 (4): 297-305. April 2007

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
Diers, A. and Carl, M. and Stoltenburg-Didinger, G. and Vorgerd, M. and Spuler, S.
Neuromuscular Disorders 17 (2): 157-162. February 2007

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
Beatham, J. and Gehmlich, K. and van der Ven, P.F.M. and Sarparanta, J. and Williams, D. and Underhill, P. and Geier, C. and Fuerst, D.O. and Udd, B. and Blanco, G.
Neuromuscular Disorders 16 (7): 437-445. July 2006

Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing.
Lenk, U. and Hanke, R. and Speer, A.
Neuromuscular Disorders 4 : 411-418. 1 January 1994