Results 141 to 150 of about 15,356 (198)

Percutaneous endoscopic gastrostomy insertion in patients with neuromuscular disease-a single centre experience of a novel technique. [PDF]

Front Gastroenterol (Lausanne)
Faher A, Gunn M, Williams TL, Dipper C, McGowan L, Rimmer C, Messer B.   +6 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

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

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

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

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility. [PDF]

J Physiol
Laitila J, Lewis CTA, Hessel AL, Primiano G, Hernandez-Lain A, Fiorillo C, Lawlor MW, Ottenheijm CAC, Jungbluth H, Man KF, Fornili A, Ochala J.   +11 more
europepmc   +1 more source

Characterization of novel CASQ1 variants in two families with unusual phenotypic features. [PDF]

J Neurol
Laarne M, Jokela M, Zhao F, Huovinen S, Kornblum C, Reimann J, Johari M, Vihola A, Sarparanta J, Udd B, Hackman P, Lehtokari VL, Pelin K.   +12 more
europepmc   +1 more source

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord
de Berny Q, Salle V, Renard C, Merle PE, Guilain N, Choukroun G, Morel P, Fourdinier O.   +7 more
europepmc   +1 more source