H-2. Collaborating to bringing new therapies for neuromuscular disorders to the patient- the treat-nmd model

Por Bushby, K
Publicado em 2009

Recent advances in understanding muscular dystrophy.

Por Bushby, K M
Publicado em 1992

Collagen VI related muscle disorders

Por Lampe, A, Bushby, K
Publicado em 2005

Collaborating to bring new therapies to the patient - the TREAT-NMD model

Por Bushby, K, Lynn, S, Straub, V
Publicado em 2009

Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy

Por Khawaja, K, Houlsby, W, Watson, S, Bushby, K, Cheetham, T
Publicado em 2004

Hereditary spastic paraparesis: a review of new developments

Por McDermott, C., White, K, Bushby, K, Shaw, P.
Publicado em 2000

Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?

Por Pogue, R, Jackson, T, Sayli, B, Curtis, A, Bushby, K M
Publicado em 1997

Centiles for adult head circumference.

Por Bushby, K M, Cole, T, Matthews, J N, Goodship, J A
Publicado em 1992

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

Por Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D
Publicado em 1993

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

Por Nicholson, L V, Bushby, K M, Johnson, M A, den Dunnen, J T, Ginjaar, I B, van Ommen, G J
Publicado em 1992

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Por Lindsey, J, Lusher, M, McDermott, C, White, K, Reid, E, Rubinsztein, D, Bashir, R, Hazan, J, Shaw, P, Bushby, K
Publicado em 2000

I-13 Muscle ryanodine receptor in congenital myopathies and channelopathies

Por Treves, S., Jeannet, P.Y., Vukcevic, M., Levano, S., Girard, T., Urwyler, A., Fischer, D., Voit, T., Jungbluth, H., Lillis, S., Muntoni, F., Quinlivan, R., Sarkozy, A., Bushby, K., Zorzato, F.
Publicado em 2011

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

Por Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Publicado em 1993

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual pat...

Por Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Publicado em 1993

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognos...

Por Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Publicado em 1993

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Por Naom, I S, D'Alessandro, M, Topaloglu, H, Sewry, C, Ferlini, A, Helbling-Leclerc, A, Guicheney, P, Weissenbach, J, Schwartz, K, Bushby, K, Philpot, J, Dubowitz, V, Muntoni, F
Publicado em 1997

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Por Lampe, A, Dunn, D, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S, Marie, S, Chu, M, Swoboda, K, Muntoni, F, Bonnemann, C, Flanigan, K, Bushby, K, Weiss, R
Publicado em 2005

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Por Passos-Bueno, M R, Moreira, E S, Marie, S K, Bashir, R, Vasquez, L, Love, D R, Vainzof, M, Iughetti, P, Oliveira, J R, Bakker, E, Strachan, T, Bushby, K, Zatz, M
Publicado em 1996

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Por Figueroa-Bonaparte, S, Hudson, J, Barresi, R, Polvikoski, T, Williams, T, Töpf, A, Harris, E, Hilton-Jones, D, Petty, R, Willis, T A, Longman, C, Dougan, C F, Parton, M J, Hanna, M G, Quinlivan, R, Farrugia, M E, Guglieri, M, Bushby, K, Straub, V, Lochmüller, H, Evangelista, T
Publicado no J Neurol Neurosurg Psychiatry (2016)

Muscle histology vs MRI in Duchenne muscular dystrophy

Por Kinali, M., Arechavala-Gomeza, V., Cirak, S., Glover, A., Guglieri, M., Feng, L., Hollingsworth, K.G., Hunt, D., Jungbluth, H., Roper, H.P., Quinlivan, R.M., Gosalakkal, J.A., Jayawant, S., Nadeau, A., Hughes-Carre, L., Manzur, A.Y., Mercuri, E., Morgan, J.E., Straub, V., Bushby, K., Sewry, C., Rutherford, M., Muntoni, F.
Publicado em 2011