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8. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. Levesque L; Del Bigio MR; Krawitz S; Mhanni AA Neuromuscul Disord; 2013 Mar; 23(3):239-42. PubMed ID: 23305948 [TBL] [Abstract][Full Text] [Related]
9. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. Hutchinson DO; Charlton A; Laing NG; Ilkovski B; North KN Neuromuscul Disord; 2006 Feb; 16(2):113-21. PubMed ID: 16427282 [TBL] [Abstract][Full Text] [Related]
10. Severe congenital actin related myopathy with myofibrillar myopathy features. Selcen D Neuromuscul Disord; 2015 Jun; 25(6):488-92. PubMed ID: 25913210 [TBL] [Abstract][Full Text] [Related]
11. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Ilkovski B; Clement S; Sewry C; North KN; Cooper ST Neuromuscul Disord; 2005 Dec; 15(12):829-35. PubMed ID: 16288873 [TBL] [Abstract][Full Text] [Related]
14. Congenital myopathies: diseases of the actin cytoskeleton. Clarkson E; Costa CF; Machesky LM J Pathol; 2004 Nov; 204(4):407-17. PubMed ID: 15495263 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Feng JJ; Marston S Neuromuscul Disord; 2009 Jan; 19(1):6-16. PubMed ID: 18976909 [TBL] [Abstract][Full Text] [Related]
17. [Congenital myopathies]. Cabello A; Ricoy-Campo JR Rev Neurol; 2003 Oct 16-31; 37(8):779-86. PubMed ID: 14593641 [TBL] [Abstract][Full Text] [Related]
18. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Susman RD; Quijano-Roy S; Yang N; Webster R; Clarke NF; Dowling J; Kennerson M; Nicholson G; Biancalana V; Ilkovski B; Flanigan KM; Arbuckle S; Malladi C; Robinson P; Vucic S; Mayer M; Romero NB; Urtizberea JA; García-Bragado F; Guicheney P; Bitoun M; Carlier RY; North KN Neuromuscul Disord; 2010 Apr; 20(4):229-37. PubMed ID: 20227276 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]