167 related articles for article (PubMed ID: 37419385)
1. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Tinklenberg JA; Slick RA; Sutton J; Zhang L; Meng H; Beatka MJ; Vanden Avond M; Prom MJ; Ott E; Montanaro F; Heisner J; Toro R; Hardeman EC; Geurts AM; Stowe DF; Hill RB; Lawlor MW
Am J Pathol; 2023 Oct; 193(10):1548-1567. PubMed ID: 37419385
[TBL] [Abstract][Full Text] [Related]
2. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Gartz M; Haberman M; Sutton J; Slick RA; Luttrell SM; Mack DL; Lawlor MW
Exp Cell Res; 2023 Mar; 424(2):113507. PubMed ID: 36796746
[TBL] [Abstract][Full Text] [Related]
3. Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.
Gineste C; Le Fur Y; Vilmen C; Le Troter A; Pecchi E; Cozzone PJ; Hardeman EC; Bendahan D; Gondin J
PLoS One; 2013; 8(4):e61517. PubMed ID: 23613869
[TBL] [Abstract][Full Text] [Related]
4. Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.
Gineste C; Duhamel G; Le Fur Y; Vilmen C; Cozzone PJ; Nowak KJ; Bendahan D; Gondin J
PLoS One; 2013; 8(8):e72294. PubMed ID: 23977274
[TBL] [Abstract][Full Text] [Related]
5. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
Ravenscroft G; Jackaman C; Bringans S; Papadimitriou JM; Griffiths LM; McNamara E; Bakker AJ; Davies KE; Laing NG; Nowak KJ
Brain; 2011 Apr; 134(Pt 4):1101-15. PubMed ID: 21303860
[TBL] [Abstract][Full Text] [Related]
6. Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
Ravenscroft G; Jackaman C; Sewry CA; McNamara E; Squire SE; Potter AC; Papadimitriou J; Griffiths LM; Bakker AJ; Davies KE; Laing NG; Nowak KJ
PLoS One; 2011; 6(12):e28699. PubMed ID: 22174871
[TBL] [Abstract][Full Text] [Related]
7. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
[TBL] [Abstract][Full Text] [Related]
8. Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
Liu Y; Lin W
Hum Mol Genet; 2024 Jan; 33(3):233-244. PubMed ID: 37883471
[TBL] [Abstract][Full Text] [Related]
9. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Agrawal PB; Strickland CD; Midgett C; Morales A; Newburger DE; Poulos MA; Tomczak KK; Ryan MM; Iannaccone ST; Crawford TO; Laing NG; Beggs AH
Ann Neurol; 2004 Jul; 56(1):86-96. PubMed ID: 15236405
[TBL] [Abstract][Full Text] [Related]
10. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B; Cooper ST; Nowak K; Ryan MM; Yang N; Schnell C; Durling HJ; Roddick LG; Wilkinson I; Kornberg AJ; Collins KJ; Wallace G; Gunning P; Hardeman EC; Laing NG; North KN
Am J Hum Genet; 2001 Jun; 68(6):1333-43. PubMed ID: 11333380
[TBL] [Abstract][Full Text] [Related]
11. L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy.
Messineo AM; Gineste C; Sztal TE; McNamara EL; Vilmen C; Ogier AC; Hahne D; Bendahan D; Laing NG; Bryson-Richardson RJ; Gondin J; Nowak KJ
Sci Rep; 2018 Jul; 8(1):11490. PubMed ID: 30065346
[TBL] [Abstract][Full Text] [Related]
12. Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
Friedman B; Simpson K; Tesi-Rocha C; Zhou D; Palmer CA; Suchy SF
Neuromuscul Disord; 2014 Apr; 24(4):331-4. PubMed ID: 24447884
[TBL] [Abstract][Full Text] [Related]
13. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
Garibaldi M; Fattori F; Pennisi EM; Merlonghi G; Fionda L; Vanoli F; Leonardi L; Bucci E; Morino S; Micaloni A; Tartaglione T; Uijterwijk B; Zierikzee M; Ottenheijm C; Bertini ES; Stoppacciaro A; Raffa S; Salvetti M; Antonini G
Neuromuscul Disord; 2021 Feb; 31(2):139-148. PubMed ID: 33384202
[TBL] [Abstract][Full Text] [Related]
14. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C; Brochier G; Taratuto AL; Cadot B; Rendu J; Monges S; Biancalana V; Quijano-Roy S; Bui MT; Chanut A; Madelaine A; Lacène E; Beuvin M; Amthor H; Servais L; de Feraudy Y; Erro M; Saccoliti M; Neto OA; Fauré J; Lannes B; Laugel V; Coppens S; Lubieniecki F; Bello AB; Laing N; Evangelista T; Laporte J; Böhm J; Romero NB
Acta Neuropathol Commun; 2022 Jul; 10(1):101. PubMed ID: 35810298
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Moreno CAM; Abath Neto O; Donkervoort S; Hu Y; Reed UC; Oliveira ASB; Bönnemann C; Zanoteli E
Pediatr Neurol; 2017 Oct; 75():11-16. PubMed ID: 28780987
[TBL] [Abstract][Full Text] [Related]
16. Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
Ohlsson M; Tajsharghi H; Darin N; Kyllerman M; Oldfors A
Neuromuscul Disord; 2004 Sep; 14(8-9):471-5. PubMed ID: 15336687
[TBL] [Abstract][Full Text] [Related]
17. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.
Tinklenberg J; Meng H; Yang L; Liu F; Hoffmann RG; Dasgupta M; Allen KP; Beggs AH; Hardeman EC; Pearsall RS; Fitts RH; Lawlor MW
Am J Pathol; 2016 Jun; 186(6):1568-81. PubMed ID: 27102768
[TBL] [Abstract][Full Text] [Related]
18. A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.
Pula S; Urankar K; Norman A; Pierre G; Langton-Hewer S; Selby V; Mason F; Vijayakumar K; McFarland R; Taylor RW; Majumdar A
Neuromuscul Disord; 2020 Feb; 30(2):159-164. PubMed ID: 32005493
[TBL] [Abstract][Full Text] [Related]
19. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Slick RA; Tinklenberg JA; Sutton J; Zhang L; Meng H; Beatka MJ; Vanden Avond M; Prom MJ; Ott E; Montanaro F; Heisner J; Toro R; Granzier H; Geurts AM; Stowe DF; Hill RB; Lawlor MW
Am J Pathol; 2023 Oct; 193(10):1528-1547. PubMed ID: 37422147
[TBL] [Abstract][Full Text] [Related]
20. Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S; Chan SHS; Hayes LH; Bradley N; Nguyen D; Leach ME; Mohassel P; Hu Y; Thangarajh M; Bharucha-Goebel D; Kan A; Ho RSL; Reyes CA; Nance J; Moore SA; Foley AR; Bönnemann CG
Neuromuscul Disord; 2017 Jun; 27(6):531-536. PubMed ID: 28416349
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]