Results 81 to 90 of about 7,069 (164)

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy. [PDF]

BMC Neurol
Pera MC, Pisanò G, Gnazzo M, Moretti S, Gambini L, Percesepe A, Esposito S, Perrone S.   +7 more
europepmc   +1 more source

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis. [PDF]

J Orthop Case Rep
Alaeddine L, Sami B, Ismail K, Seifeddine T, Zied J, Mahmoud S.   +5 more
europepmc   +1 more source

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature [PDF]

, 2015

core   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

A comprehensive framework for the interpretation of TTN missense variants. [PDF]

Genome Med
Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen CT, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B, T. T. N. study group, Gautel M, Savarese M.   +59 more
europepmc   +2 more sources

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives. [PDF]

Biomolecules
Lanza M, Zito E, Dinoi G, Buono AV, De Luca A, Imbrici P, Liantonio A, Conte E.   +7 more
europepmc   +1 more source