Browse by Journal Title

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., 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., 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., 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.
Neuromuscular Disorders 17 (2): 157-162. February 2007

2006

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
Beatham, J., Gehmlich, K., van der Ven, P.F.M., Sarparanta, J., Williams, D., Underhill, P., Geier, C., 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