Results 71 to 80 of about 2,179 (131)

Inspiratory Muscle Training in Nemaline Myopathy. [PDF]

J Neuromuscul Dis, 2023
van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J.   +5 more
europepmc   +1 more source

A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin. [PDF]

Proc Natl Acad Sci U S A, 2023
Schultz LE, Colpan M, Smith GE, Mayfield RM, Larrinaga TM, Kostyukova AS, Gregorio CC.   +6 more
europepmc   +1 more source

Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review. [PDF]

Cureus, 2023
Mohtisham F, Al Thaqafi M, Shawli A, Sallam A.   +3 more
europepmc   +1 more source

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study. [PDF]

Orphanet J Rare Dis, 2023
Lehtokari VL, Similä M, Tammepuu M, Wallgren-Pettersson C, Strang-Karlsson S, Hiekkala S.   +5 more
europepmc   +1 more source

Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. [PDF]

Neurol Genet, 2023
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, de Medeiros GC, Sassi FC, de Andrade CRF, Donkervoort S, Silva AMS, Dalfior-Junior L, Abath-Neto OL, Reed UC, Bönnemann C, Zanoteli E.   +13 more
europepmc   +1 more source

Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force. [PDF]

Int J Mol Sci, 2023
Lindqvist J, Granzier H.
europepmc   +1 more source

Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. [PDF]

Hum Mol Genet
Baelde RJ, Vonk LA, Nollet EE, Galli RA, Monteiro AF, Bastu S, Das B, van Weeghel M, Schomakers BV, Vinten KT, van den Berg M, van der Velden J, Houtkooper RH, Voermans NC, Malfatti E, Ottenheijm CAC, de Winter JM.   +16 more
europepmc   +1 more source

NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. [PDF]

Hum Mol Genet, 2023
Casey JG, Kim ES, Joseph R, Li F, Granzier H, Gupta VA.   +5 more
europepmc   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Clinical Course of Dysphagia in Patients with Nemaline Myopathy. [PDF]

Children (Basel), 2022
Yoo YJ, Shin BK, Yoon MJ, Lim SH, Kim JS, Hong BY.   +5 more
europepmc   +1 more source