Results 101 to 110 of about 8,048 (176)

<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. [PDF]

J Neurol Neurosurg Psychiatry
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN.   +31 more
europepmc   +1 more source

Risk Stratification and Optimal Use of Implantable Cardioverter-Defibrillator Therapy in Primary Prevention of Sudden Cardiac Death in Genetic Cardiomyopathies, with Assessment of the Role of Genetic Variants in Guiding Therapeutic Decisions. [PDF]

Biomedicines
Ruscio E, Scacciavillani R, Gurgoglione FL, Pinnacchio G, Bencardino G, Perna F, Narducci ML, Pelargonio G, Niccoli G, Locorotondo G, Burzotta F.   +10 more
europepmc   +1 more source

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. [PDF]

NPJ Genom Med
Koch RL, Fares AH, Cocanougher BT, Lim J, Haijer-Schreuder AB, Derks TGJ, Grünert SC, Sharma R, Jones KA, Kishnani PS.   +9 more
europepmc   +1 more source

Aquaporin-4 downregulation in dysphagic patients with idiopathic inflammatory myopathies: myofiber vulnerability and inflammation drivers. [PDF]

Rheumatology (Oxford)
Fornaro M, Giannini M, D'Abbicco D, Fiorella ML, Errede M, Virgintino D, Valente O, Frigeri A, Iannone F, Girolamo F.   +9 more
europepmc   +1 more source

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression. [PDF]

Cells
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R.   +4 more
europepmc   +1 more source

Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders. [PDF]

Vet Clin North Am Equine Pract
Durward-Akhurst SA, Valberg SJ.
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

Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency. [PDF]

Acta Neuropathol
Hedberg-Oldfors C, Lindgren U, Visuttijai K, Shen Y, Ilinca A, Nordström S, Lindberg C, Oldfors A.   +7 more
europepmc   +1 more source

Identifying inherited metabolic disorders in children: the role of elevated creatine kinase. [PDF]

BMC Pediatr
Yoldaş Çelik M, Köşeci B.
europepmc   +1 more source

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions. [PDF]

J Clin Invest
Bogomolovas J, Chen J.
europepmc   +1 more source