Results 191 to 200 of about 5,284 (245)

Combined MRI and 31P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism

, 2013
Charlotte Gineste, Yann Le Fur, Christophe Vilmen, Arnaud Le Troter, Émilie Pecchi, Patrick J. Cozzone, Edna C. Hardeman, David Bendahan, Julien Gondin   +8 more
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Sporadic late-onset nemaline myopathy (SLONM): Data from a case series and literature review of 144 patients

Antonio Lauletta, Francesca Forcina, Gioia Merlonghi, Laura Fionda, Luca Leonardi, Rocco Costanzo, Laura Tufano, Elena Rossini, Demetrio Marando, Valentina Vera, Giovanni Antonini, Stefania Morino, Matteo Garibaldi   +12 more
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Nemaline myopathy mechanisms [PDF]

Nature Genetics, 1995
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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. [PDF]

Acta Neuropathol
Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H.   +9 more
europepmc   +1 more source

Childhood Onset Familial Nemaline Rod Myopathy: A Report of Two Siblings

, 2014
Geetanjali Sharma, Sushma Sood
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Monoclonal Gammopathy – the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy

Eleonora Torchia, Frauke Stascheit, Felix Kleefeld, Stephan J. Schreiber, Hans H. Goebel, Werner Stenzel   +5 more
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Sporadic Late-Onset Nemaline Myopathy Associated with Multiple Myeloma: A Case Report

Y. FURUKAWA, Keiichi Hokkoku, Yuichi Furukawa, Yuki Hagiwara, Akatsuki Kubota, Jun Shimizu, Ryosuke Shirasaki, Shunsuke Kobayashi   +7 more
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Nemaline myopathy

Neurology, 1967
NEMALINE MYOPATHY, first described by Shy et al in 1963, 1 is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition
P, Hudgson, D, Gardner-Medwin, J J, Fulthorpe, J N, Walton   +3 more
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Nemaline Myopathies

Seminars in Pediatric Neurology, 2011
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. The patients' muscle weakness is usually generalized, but there may be a selective pattern of more pronounced ...
Carina, Wallgren-Pettersson, Caroline A, Sewry, Kristen J, Nowak, Nigel G, Laing   +3 more
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