Results 171 to 180 of about 28,319 (230)

Myosinopathies: pathology and mechanisms [PDF]

core   +1 more source

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report. [PDF]

Cureus
Swami SS, Campbell M, Basappakokati DR.
europepmc   +1 more source

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
europepmc   +1 more source

Expanding the Molecular and Pathologic Spectrum of <i>HSPB8</i> Myopathy and Distal Motor Neuropathy. [PDF]

Neurol Genet
Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.   +7 more
europepmc   +1 more source

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. [PDF]

Neurology, 2016
europepmc   +1 more source

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders. [PDF]

Degener Neurol Neuromuscul Dis
Xia X, Chen X, Sun Y, Zhang M, Qiao K, Chen Y, Zhao C, Dong Y, Zhu W.   +8 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   +1 more source