Results 121 to 130 of about 15,356 (198)

Sporadic Late-onset Nemaline Myopathy Presenting with Dropped Head Syndrome and Complicated with Sjögren's Syndrome. [PDF]

Intern Med
Seki A, Seki T, Nagasako Y, Sugiyama Y, Bannai T, Yamada M, Maeda M, Kubota A, Shiio Y.   +8 more
europepmc   +1 more source

Novel FHL1 Mutation Associated With Reducing Body Myopathy. [PDF]

Cureus
Ruffing KW, Rivera-Zengotita M, Kugelmann L, Jordan M.   +3 more
europepmc   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source

Guideline of the German Society of Neurology (DGN): "diagnosis and therapy of HIV-1-associated neurological disorders". [PDF]

Neurol Res Pract
Hahn K, Arendt G, Eggers C, Granziera C, Maschke M.   +4 more
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Acta Neuropathologica Communications, 2018
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini   +15 more
doaj   +1 more source

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
europepmc   +1 more source

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways. [PDF]

Front Neurol
Hedberg-Oldfors C, Bedir AZ, Visuttijai K, Michael E, Oldfors A.   +4 more
europepmc   +1 more source

Case Report: Overlap syndrome with concurrent polymyositis, masticatory myositis, and lymphocytic thyroiditis in a dog. [PDF]

Front Vet Sci
Crawford-Jennings MI, Moreno RC, Shelton GD, Fowler KM, Vezza CR, Shinn RL, Parker RL, Wilkinson AR.   +7 more
europepmc   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source