Results 101 to 110 of about 3,165 (200)

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

, 2013
Background: Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one.
Malik, F.I., Stienen, G.J.M., Jasper, J.R., Lawlor, M.W., Beggs, A.H., Granzier, H., de Winter, J.M., Hidalgo, C., Clarke, N.F., Buck, D., Ottenheijm, C.A.C.   +10 more
core   +1 more source

Screening for Suppressors of Nemaline Myopathy in Zebrafish and Mouse Models of the Disease

, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations. 13 genes have been linked to nemaline myopathy, all of which are associated with the thin filament of ...
Qiu, Boyang
core   +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

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

Cureus
Belkhribchia MR.
europepmc   +1 more source

Nemaline myopathy [PDF]

, 2020
openaire   +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

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy

, 2012
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy.
Palladino A, Taglia L, D’Ambrosio P, POLITANO, Luisa   +3 more
core  

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

Open bite malocclusion and orofacial dysfunction in patients with rare diseases. [PDF]

Eur J Orthod
Havner C, Mogren Å, Sjögreen L, Westerlund A.   +3 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