Results 121 to 130 of about 7,069 (164)

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source

<i>RYR1</i>-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling. [PDF]

Biomolecules
Sabbatini D, Gorgoglione D, Minervini G, Fusto A, Suman M, Romualdi C, Vianello S, Capece G, Sorarù G, Marchioretti C, Pennuto M, Vedovelli L, Szabadkai G, Bello L, Pegoraro E.   +14 more
europepmc   +1 more source

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant Weakness

Jose A, Azily A, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +1 more source

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. [PDF]

Eur J Hum Genet
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL.   +30 more
europepmc   +1 more source

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential. [PDF]

Int J Mol Sci
Sabatelli P, Di Martino A, Faldini C, Bonaldo P, Merlini L, Cenni V.   +5 more
europepmc   +1 more source

Long-read sequencing for diagnosis of genetic myopathies. [PDF]

BMJ Neurol Open
Yeow D, Rudaks LI, Davis R, Ng K, Ghaoui R, Cheong PL, Ravenscroft G, Kennerson M, Deveson I, Kumar KR.   +9 more
europepmc   +1 more source

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations

Zmojdzian M, Jagla T, Cherik F, Dubinska-Magiera M, Migocka-Patrzalek M, Daczewska M, Rendu J, Jagla K, Sarret C.   +8 more
europepmc   +1 more source

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Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy

Acta Neuropathologica, 1998
A 44-year-old man presenting with dyspnoic attacks was found to be affected with congenital myopathy, rigid spine, restrictive respiratory insufficiency and cardiomyopathy. Muscle biopsy showed type 1 fiber predominance (65.7%) and hypotrophy, and characteristic changes in 43.9% of the type 1 fibers, consisting in alternating pale and dark staining on ...
MARBINI A, BADIALI L, BELLANOVA MF, MARGARITO F., GEMIGNANI, Franco   +4 more
openaire   +2 more sources