Results 81 to 90 of about 69,426 (175)

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods.

Experimental cell research, 1980
A biopsy of skeletal muscle taken from a child with the clinical symptoms of congenital nemaline myopathy was studied. Light and electron microscopy revealed rod-like structures within the muscle fibres, and thus confirmed the clinical diagnosis. Indirect immunofluorescence, using specific antibodies against actin and desmin (both derived from chicken ...
Jockusch, B.M., Veldman, H., Griffiths, G.W., Oost, B.A. van, Jennekens, F.G.I.   +4 more
openaire   +2 more sources

Nemaline Myopathy in Systemic Lupus Erythematosus. [PDF]

Eur J Rheumatol
Cui R, Luan XH, Dai SM.
europepmc   +1 more source

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]

J Clin Med
Sadeh M, Dabby R.
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

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

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
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

Outcomes in Patients With Immune Checkpoint Inhibitor-Related Myopathy and Prolonged Follow-Up. [PDF]

Neurol Neuroimmunol Neuroinflamm
Segal Y, Mangioris G, Toledano M, Kottschade L, Flanagan EP, McKeon A, Stoff R, Naddaf E, Pittock SJ, Dubey D, Zekeridou A.   +10 more
europepmc   +1 more source

Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype. [PDF]

Neuromuscul Disord
Meyer AP, Yousfi S, Nicolau S, Rashnonejad A, Zhu J, Sahenk Z, Frair E, Lin H, Ramadesikan S, Koboldt D, Flanigan KM.   +10 more
europepmc   +1 more source