Results 111 to 120 of about 15,356 (198)

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

Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems. [PDF]

Front Physiol
Matsui H, Chbihi Z, Mashni R, Hachem H, Snider S, Sujkowski A.   +5 more
europepmc   +1 more source

Nemaline myopathy [PDF]

, 2020
openaire   +1 more source

Alpha-actin mutations in congenital myopathies: identification of cell death as a new cellular Nemaline Myopathy phenotype and induction of similar cytoskeletal defects by mutants associated with different myopathies

, 2009
The most abundant protein in eukaryotes is the cytoskeletal protein actin, of which six isoforms exist. Mutations in α-skeletal muscle actin, main actin isoform in skeletal muscle, are associated with three congenital myopathies : nemaline myopathy (NM),
Vandamme, Drieke
core  

Nemaline Myopathy Associated with a NEB Splice-Site Variant: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders. [PDF]

J Neuromuscul Dis
Bengtsson-Stelzer L, Kroksmark AK, Persson C, Tuomi L, Ekström AB.   +4 more
europepmc   +1 more source

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 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

Sporadic Late-onset Nemaline Myopathy Associated with Multiple Myeloma. [PDF]

Intern Med
Furukawa Y, Hokkoku K, Furukawa Y, Hagiwara Y, Kubota A, Shimizu J, Shirasaki R, Kobayashi S.   +7 more
europepmc   +1 more source