Results 121 to 130 of about 1,662 (201)

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

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy. [PDF]

BMC Neurol
Zanotti S, Ronchi D, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Bertolasi L, Del Bo R, Magri F, Velardo D, Comi GP, Corti S, Sciacco M.   +12 more
europepmc   +1 more source

Hypercapnic respiratory failure in pregnancy: A rare presentation of a congenital myopathy. [PDF]

Obstet Med
Earl N, Chivers G, Davidson P.
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

Human skeletal muscle fiber heterogeneity beyond myosin heavy chains. [PDF]

Nat Commun
Moreno-Justicia R, Van der Stede T, Stocks B, Laitila J, Seaborne RA, Van de Loock A, Lievens E, Samodova D, Marín-Arraiza L, Dmytriyeva O, Browaeys R, Van Vossel K, Moesgaard L, Yigit N, Anckaert J, Weyns A, Van Thienen R, Sahl RE, Zanoteli E, Lawlor MW, Wierer M, Mestdagh P, Vandesompele J, Ochala J, Hostrup M, Derave W, Deshmukh AS.   +26 more
europepmc   +1 more source

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. [PDF]

Hum Mol Genet
Dofash LNH, Folland C, Dyke J, Farhat E, Chaabouni M, Miladi N, Needham M, Lamont PJ, Ashton C, Ravenscroft G.   +9 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

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source