Results 211 to 220 of about 12,800 (285)

Autosomal recessive Bethlem myopathy: a 30-year journey. [PDF]

J Neurol
Gallone A, Riolo G, Ruggieri A, Iannibelli E, Salerno F, Nicolini De Gaetano L, Carnazzi A, Maggi L, Gibertini S.   +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

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study. [PDF]

BMC Musculoskelet Disord
Deng J, Wang N, Wu Y, Hao Z, Wu H, Ma S, Liu J, Ji G, Song X.   +8 more
europepmc   +1 more source

Different faces of anti-melanoma differentiation-associated gene 5 antibody-positive myositis. [PDF]

Reumatologia
Opinc-Rosiak A, Pawlak K, Lewandowska-Polak A, Budlewski T, Nolberczak D, Lesiak A, Narbutt J, Makowska J.   +7 more
europepmc   +1 more source

A case of paraneoplastic myositis induced rhabdomyolysis due to pancreatic adenocarcinoma. [PDF]

Oxf Med Case Reports
Ahl A, Orphali R, Desai K.
europepmc   +1 more source

Immune-Mediated Necrotizing Myopathy: A Systematic Review of Antibody-Specific Mechanisms and Treatment Outcomes. [PDF]

Cureus
Vaezi Z, Amini A.
europepmc   +1 more source

A cutaneous lesion associated with primary polymyositis [PDF]

, 1993
España, A. (Agustín), Idoate, M.A. (Miguel Ángel), Indart, F. (Francisco), Lucas, I. (Ignacio), Quintanilla, E. (Emilio)   +4 more
core  

<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. [PDF]

J Neurol Neurosurg Psychiatry
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN.   +31 more
europepmc   +1 more source

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology. [PDF]

Antioxidants (Basel)
Zoppi D, Russo A, Vallefuoco F, De Maria M, Esposito G, Fioretti T, Maiolo V, Santorelli FM, Iodice R, Tozza S, Dubbioso R, Manganelli F, Ruggiero L.   +12 more
europepmc   +1 more source