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2. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Agrawal PB; Greenleaf RS; Tomczak KK; Lehtokari VL; Wallgren-Pettersson C; Wallefeld W; Laing NG; Darras BT; Maciver SK; Dormitzer PR; Beggs AH Am J Hum Genet; 2007 Jan; 80(1):162-7. PubMed ID: 17160903 [TBL] [Abstract][Full Text] [Related]
3. Expanding the histopathological spectrum of CFL2-related myopathies. Fattori F; Fiorillo C; Rodolico C; Tasca G; Verardo M; Bellacchio E; Pizzi S; Ciolfi A; Fagiolari G; Lupica A; Broda P; Pedemonte M; Moggio M; Bruno C; Tartaglia M; Bertini E; D'Amico A Clin Genet; 2018 Jun; 93(6):1234-1239. PubMed ID: 29457652 [TBL] [Abstract][Full Text] [Related]
4. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Ockeloen CW; Gilhuis HJ; Pfundt R; Kamsteeg EJ; Agrawal PB; Beggs AH; Dara Hama-Amin A; Diekstra A; Knoers NV; Lammens M; van Alfen N Neuromuscul Disord; 2012 Jul; 22(7):632-9. PubMed ID: 22560515 [TBL] [Abstract][Full Text] [Related]
5. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Rosen SM; Joshi M; Hitt T; Beggs AH; Agrawal PB Hum Mol Genet; 2020 Jul; 29(12):1996-2003. PubMed ID: 32160286 [TBL] [Abstract][Full Text] [Related]
6. Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. Gajda A; Horváth E; Hortobágyi T; Gergev G; Szabó H; Farkas K; Nagy N; Széll M; Sztriha L J Child Neurol; 2015 Apr; 30(5):627-30. PubMed ID: 24056153 [TBL] [Abstract][Full Text] [Related]
7. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Anderson SL; Ekstein J; Donnelly MC; Keefe EM; Toto NR; LeVoci LA; Rubin BY Hum Genet; 2004 Aug; 115(3):185-90. PubMed ID: 15221447 [TBL] [Abstract][Full Text] [Related]
8. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Laing NG; Wilton SD; Akkari PA; Dorosz S; Boundy K; Kneebone C; Blumbergs P; White S; Watkins H; Love DR Nat Genet; 1995 Jan; 9(1):75-9. PubMed ID: 7704029 [TBL] [Abstract][Full Text] [Related]
9. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Gommans IM; Davis M; Saar K; Lammens M; Mastaglia F; Lamont P; van Duijnhoven G; ter Laak HJ; Reis A; Vogels OJ; Laing N; van Engelen BG; Kremer H Brain; 2003 Jul; 126(Pt 7):1545-51. PubMed ID: 12805120 [TBL] [Abstract][Full Text] [Related]
10. Development of TaqMan allelic discrimination based genotyping of large DNA deletions. Fedick A; Su J; Treff NR Genomics; 2012 Mar; 99(3):127-31. PubMed ID: 22281206 [TBL] [Abstract][Full Text] [Related]
11. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. Thirion C; Stucka R; Mendel B; Gruhler A; Jaksch M; Nowak KJ; Binz N; Laing NG; Lochmüller H Eur J Biochem; 2001 Jun; 268(12):3473-82. PubMed ID: 11422377 [TBL] [Abstract][Full Text] [Related]
12. Nemaline myopathy: a tale of two cultures. Dubowitz V Neuromuscul Disord; 2009 Mar; 19(3):177-8. PubMed ID: 19231186 [No Abstract] [Full Text] [Related]
13. 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]
14. Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. Yonath H; Reznik-Wolf H; Berkenstadt M; Eisenberg-Barzilai S; Lehtokari VL; Wallgren-Pettersson C; Mehta L; Achiron R; Gilboa Y; Polak-Charcon S; Winder T; Frydman M; Pras E Prenat Diagn; 2012 Jan; 32(1):70-4. PubMed ID: 22367672 [TBL] [Abstract][Full Text] [Related]
15. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Lehtokari VL; Pelin K; Donner K; Voit T; Rudnik-Schöneborn S; Stoetter M; Talim B; Topaloglu H; Laing NG; Wallgren-Pettersson C Eur J Hum Genet; 2008 Sep; 16(9):1055-61. PubMed ID: 18382475 [TBL] [Abstract][Full Text] [Related]