224 related articles for article (PubMed ID: 22174871)
1. 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]
2. 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]
3. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Sztal TE; Zhao M; Williams C; Oorschot V; Parslow AC; Giousoh A; Yuen M; Hall TE; Costin A; Ramm G; Bird PI; Busch-Nentwich EM; Stemple DL; Currie PD; Cooper ST; Laing NG; Nowak KJ; Bryson-Richardson RJ
Acta Neuropathol; 2015 Sep; 130(3):389-406. PubMed ID: 25931053
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Ryan MM; Ilkovski B; Strickland CD; Schnell C; Sanoudou D; Midgett C; Houston R; Muirhead D; Dennett X; Shield LK; De Girolami U; Iannaccone ST; Laing NG; North KN; Beggs AH
Neurology; 2003 Feb; 60(4):665-73. PubMed ID: 12601110
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Jungbluth H; Sewry CA; Brown SC; Nowak KJ; Laing NG; Wallgren-Pettersson C; Pelin K; Manzur AY; Mercuri E; Dubowitz V; Muntoni F
Neuromuscul Disord; 2001 Jan; 11(1):35-40. PubMed ID: 11166164
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Nowak KJ; Ravenscroft G; Laing NG
Acta Neuropathol; 2013 Jan; 125(1):19-32. PubMed ID: 22825594
[TBL] [Abstract][Full Text] [Related]
10. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Wallefeld W; Krause S; Nowak KJ; Dye D; Horváth R; Molnár Z; Szabó M; Hashimoto K; Reina C; De Carlos J; Rosell J; Cabello A; Navarro C; Nishino I; Lochmüller H; Laing NG
Neuromuscul Disord; 2006 Oct; 16(9-10):541-7. PubMed ID: 16945536
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Myofiber adaptational response to exercise in a mouse model of nemaline myopathy.
Nair-Shalliker V; Kee AJ; Joya JE; Lucas CA; Hoh JF; Hardeman EC
Muscle Nerve; 2004 Oct; 30(4):470-80. PubMed ID: 15372535
[TBL] [Abstract][Full Text] [Related]
13. Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
Ochala J; Ravenscroft G; Laing NG; Nowak KJ
PLoS One; 2012; 7(9):e45923. PubMed ID: 23029319
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
Sewry CA; Holton JL; Dick DJ; Muntoni F; Hanna MG
Neuromuscul Disord; 2015 May; 25(5):388-91. PubMed ID: 25747004
[TBL] [Abstract][Full Text] [Related]
16. Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.
Joya JE; Kee AJ; Nair-Shalliker V; Ghoddusi M; Nguyen MA; Luther P; Hardeman EC
Hum Mol Genet; 2004 Nov; 13(21):2633-45. PubMed ID: 15367485
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
Schröder JM; Durling H; Laing N
Acta Neuropathol; 2004 Sep; 108(3):250-6. PubMed ID: 15221331
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]