K. Bushby

Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases

Anne Bellin, K. Bushby, Patrick F. Chinnery, Louise Germain et autres

Does the performance of upper limb capture functional variations in dysferlinopathy?

M. James, Anna Mayhew, D. Moat, Michelle Eagle et autres

gb, us, au, fr, de, es, jp, it (code pays fourni par la source)

Fracture incident rate and growth in a nationwide cohort of boys with Duchenne Muscular Dystrophy

S Joseph, K. Bushby, M. Guglieri, Iain Horrocks et autres

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Fracture incident rate and growth in a nationwide cohort of boys with Duchenne muscular dystrophy (Presented on behalf of The UK North Star Clinical Network)

S Joseph, K. Bushby, M. Guglieri, Iain Horrocks et autres

gb (code pays fourni par la source)

Telethonin gene mutations detected by next generation sequencing

James R. Hudson, Stephen L. Cameron, Emma Graham, Teresinha Evangelista et autres

Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period

Maria Sframeli, Anna Sárközy, Marta Bertoli, Guja Astrea et autres

gb, it (code pays fourni par la source)

Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies

Anna Sárközy, Silvia Torelli, Rita Barresi, Marta Bertoli et autres

gb (code pays fourni par la source)

TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders)

Annemieke Aartsma‐Rus, Erin Hoffman, Filippo Bucella, K. Flanigan et autres

nl, us, it, de, fr, jp, au, se, gb (code pays fourni par la source)

G.P.313

Marta Bertoli, Teresinha Evangelista, Andrea Sarkozy, Andrew M. Schaefer et autres

gb (code pays fourni par la source)

P77 Collagen XII; novel disease-causing candidate gene for Bethlem-like patients

Golara Torabi Farsani, Debbie Hicks, S. Laval, Jacob M. Collins et autres

P12 Hypertrophy in cardiomyocytes isolated from mdx embryos

Morten Ritso, E. D. Roberts, Scott Wright, Thomas A Slater et autres

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

Domenica Taruscio, Cristina Morciano, Paola Laricchiuta, Pierpaolo Mincarone et autres

RARE-Bestpractices ( http://www.rarebestpractices.eu ) involves 9 EU countries, including 15 partners from academic institutions, governmental bodies, patient organizations and networks, which will exploit the added value of integrating different contributions and viewpoints. The platform is developed involving both experts in RD research …

it, se, gb, fr, de, es, nl (code pays fourni par la source)