Results 91 to 100 of about 3,165 (200)

Clinical course correlates poorly with muscle pathology in nemaline myopathy

, 2003
Objective: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. Methods: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed ...
De Girolami, U, Beggs, AH, Muirhead, D, Dermett, [No Value], Schnell, C, Ilkovski, B, Shield, LK, Ryan, MM, Strickland, CD, Midgett, C, Houston, R, Iannaccone, ST, Laing, NG, North, KN, Sanoudou, D   +14 more
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Slow myosin heavy chain isozyme in nemaline myopathy.

, 1985
Muscle biopsies from two sporadic cases of congenital nemaline myopathy were examined for myosin heavy chain composition. Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain ...
Scarpini E, DAMIANI, ERNESTO, MARGRETH, ALFREDO, Biral D, Scarlato G.   +4 more
core   +1 more source

Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-

, 1990
We describe two cases of congenital nemaline myopathy presented with gait disturbance due to calcaneocavovalgus deformity. They showed characteristic dysmorphic features, i.e., an elongated face, antegraded chin, and high-arched palate.
Park, Sung Hye, Hwang, Yong Seung, Chi, Je Geun   +2 more
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Deciphering the Effect of Nemaline-Myopathy Nebulin Mutations on Desmin Binding [PDF]

, 2013
Our research focuses on the role of intermediate proteins in human disease. Desmin, a major intermediate filament protein in muscle cells, is organized into a central coiledcoil alpha helical domain flanked by globular head and tail domains.
Jacobs, Krystyna M
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Neuromuscular disease mimicking myasthenia gravis in a Nigerian female adolescent: Could this be Nemaline rod Disease?

, 2017
Background : Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis.Methods : We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but
Oyinlade, O.A., Adebayo, B.E., Lagunju, I.A.   +2 more
core   +1 more source

‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

, 2019
Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle ...
Maria B. Chiarini Testa, Michela Catteruccia, Claudio Bruno, Maria Giovanna Paglietti, Fabiana Fattori, Margherita Verardo, Enrico Bertini, Adele D’Amico, Chiara Fiorillo   +8 more
core   +1 more source

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

, 2018
Background: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved ...
S. H. Tonekaboni, Sagath, L.,, Sagath, L., Tonekaboni, Seyed Hassan,, Varasteh, Vahid,, Davis, Mark R.,, Nilipour, Y., Nafissi, S., V. Varasteh, L. Sagath, M. R. Davis, Davis, M. R., A. E. Tjust, Varasteh, V., Kiiski, Kirsi,, Tajsharghi, Homa,, Tonekaboni, S. H., Laing, N. G., Taylor, R. L., Zangi, Mahdi,, M. Zangi, Taylor, Rhonda L.,, R. L. Taylor, H. Hossein Nejad Nedai, M. Olivé, Olivé, M.,, Ravenscroft, G., F. Pedrosa Domellöf, Ravenscroft, Gianina,, Laing, Nigel G.,, Tajsharghi, H., Y. Nilipour, N. G. Laing, Kiiski, K., H. Tajsharghi, Pedrosa Domellöf, Fatima,, S. Nafissi, Tjust, Anton E.,, Zangi, M., Hossein-Nejad Nedai, Hamid,, Hossein Nejad Nedai, H., Nafissi, Shahriar,, Olivé, M., K. Kiiski, Nilipour, Yalda,, G. Ravenscroft   +45 more
core   +1 more source

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

, 2000
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants
Morton, D. Holmes, Biesecker, Leslie G., Agarwala, Richa, Schäffer, Alejandro A., Kelley, Richard I., Francomano, Clair A., Johnston, Jennifer J., Koch, Thorsten, Crawford, Thomas O.   +8 more
core   +1 more source

Nemaline myopathy: description of an adult onset case.

, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M, Malandrini A, Mondelli M, Federico A, Gambelli S, Ginanneschi F   +5 more
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