2021

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore, U., Gordish, H., Diaz-Manera, J., James, M.K., Mayhew, A.G., Guglieri, M., Torron, R.F., Rufibach, L.E., Feng, J., Blamire, A.M., Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Lowes, L.P., Mendell, J.R., Bushby, K. and Straub, V.
Neuromuscular Disorders 31 (4): 265-280. April 2021

2019

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., Butler-Browne, G., Muntoni, F. and Patel, K.
Neuromuscular Disorders 29 (9): 704-715. 2019

2017

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh, P., Meinke, P., Korfali, N., Srsen, V., Robson, M.I. ORCID: https://orcid.org/0000-0003-1126-3538, Wehnert, M., Schoser, B., Sewry, C.A. and Schirmer, E.C.
Neuromuscular Disorders 27 (4): 338-351. April 2017

2014

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

2007

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
Piercy, R.J., Zhou, H., Feng, L., Pombo, A. ORCID: https://orcid.org/0000-0002-7493-6288, 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., Carl, M., Stoltenburg-Didinger, G., Vorgerd, M. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Neuromuscular Disorders 17 (2): 157-162. February 2007

2006

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
Beatham, J., Gehmlich, K. ORCID: https://orcid.org/0000-0003-4019-1844, van der Ven, P.F.M., Sarparanta, J., Williams, D., Underhill, P., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Fuerst, D.O., Udd, B. and Blanco, G.
Neuromuscular Disorders 16 (7): 437-445. July 2006

1994

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