Results 101 to 110 of about 1,662 (201)

Mutation update: the spectra of nebulin variants and associated myopathies

, 2014
A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes ...
Marttila, Minttu, den Dunnen, Johan T., Winder, Thomas L., Barth, Peter G., Beggs, Alan H., Pelin, Katarina, Wallgren-Pettersson, Carina, North, Kathryn N., Saunders, Carol, Clarke, Nigel F., Laing, Nigel G., Kiiski, Kirsi, Sandaradura, Sarah A., Repo, Pauliina, Frey, Jennifer A., Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Romero, Norma B., Donner, Kati   +18 more
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Expanding the histopathological spectrum ofCFL2-related myopathies

, 2018
Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes.
A. Lupica, Verardo, M., Broda, P., Fiorillo, C., D'Amico, Adele, M. Moggio, C. Rodolico, Tartaglia, M., Bruno, C., M. Verardo, E. Bellacchio, Tasca, G., G. Fagiolari, P. Broda, Fattori, F., C. Fiorillo, Bellacchio, E., Pizzi, S., S. Pizzi, Ciolfi, A., A. D'Amico, Lupica, A., M. Pedemonte, E. Bertini, Moggio, M., F. Fattori, Rodolico, C., M. Tartaglia, Fagiolari, G., Bertini, E., G. Tasca, C. Bruno, A. Ciolfi, Pedemonte, M.   +33 more
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Quantitative histopathology in congenital myopathies

, 1987
A histo-morphometric analysis has been carried out in 23 muscle biopsies obtained from patients with congenital myopathies (6 nemaline m., 10 centronuclear m., 4 central core m., 3 multicore m.) in order to improve diagnosis and to confirm the data ...
Angelini C., Ceccato M. B., Micaglio G., Trevisan C.   +3 more
core  

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy

, 2017
Nemaline myopathy is among the most common non-dystrophic congenital myopathies, and is characterized by the presence of nemaline rods in skeletal muscles fibers, general muscle weakness, and hypotonia.
de Winter, Josine M, Joureau, Barbara, Stam, Kelly, Granzier, Henk, Ottenheijm, Coen A C   +4 more
core   +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  

Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies

One of the most prevalent types of congenital myopathy is nemaline myopathy (NM), which is recognized by histopathological examination of muscle fibers for the presence of “nemaline bodies” (rods).
Rocío Piñero-Pérez, Romero-González, Ana, García Verdugo, José Manuel, Gómez-Fernández, David, Pablos, Rocío M. de, Diana Reche-López, Mario de la Mata, José A. Sánchez-Alcázar, Paula Cilleros-Holgado, Cilleros-Holgado, Paula, Mata, Mario de la, David Gómez-Fernández, Romero-Domínguez, José Manuel, Mónica Álvarez-Córdoba, Álvarez-Córdoba, Mónica, Alejandra López-Cabrera, José Manuel García-Verdugo, José Manuel Romero-Domínguez, González Granero, Susana, Ana Romero-González, Reche-López, Diana, Susana González-Granero, Rocío M. de Pablos, Piñero-Perez, Rocío, López-Cabrera, Alejandra, Sánchez-Alcázar, José Antonio   +25 more
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Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy

Nemaline myopathies are the most common form of congenital myopathies. Variants in ACTA1 (NEM3) comprise 15-25% of all nemaline myopathy cases. Patients harboring variants in ACTA1 present with a heterogeneous disease course characterized by stable or ...
Ricardo A. Galli, Tamara C. Borsboom, Darren T. Hwee, Roberto Bottinelli, Maira Rossi, Fady I. Malik, Coen A. C. Ottenheijm, Charlotte Gineste, Julien Gondin, Lorenza Brocca, Maria-Antonietta Pellegrino, Josine M. de Winter   +11 more
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Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
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

Nemaline myopathy [PDF]

, 2020
openaire   +1 more source