Results 71 to 80 of about 1,422 (160)

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

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

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

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

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

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

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

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

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source