These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

92 related articles for article (PubMed ID: 24610938)

  • 1. Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
    Ong RW; AlSaman A; Selcen D; Arabshahi A; Yau KS; Ravenscroft G; Duff RM; Atkinson V; Allcock RJ; Laing NG
    J Neurol Neurosurg Psychiatry; 2014 Sep; 85(9):1058-60. PubMed ID: 24610938
    [No Abstract]   [Full Text] [Related]  

  • 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]  

  • 16. Recent advances in nemaline myopathy.
    Romero NB; Sandaradura SA; Clarke NF
    Curr Opin Neurol; 2013 Oct; 26(5):519-26. PubMed ID: 23995272
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
    Bouldin AA; Parisi MA; Laing N; Patterson K; Gospe SM
    Muscle Nerve; 2007 Feb; 35(2):254-8. PubMed ID: 16967490
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Histopathologic progression and a novel mutation in a child with nemaline myopathy.
    Ladha S; Coons S; Johnsen S; Sambuughin N; Bien-Wilner R; Sivakumar K
    J Child Neurol; 2008 Jul; 23(7):813-7. PubMed ID: 18487519
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.
    Laing NG; Wallgren-Pettersson C
    Neuromuscul Disord; 2009 Apr; 19(4):300-5. PubMed ID: 19264483
    [No Abstract]   [Full Text] [Related]  

  • 20. Clinical utility gene card for: Nemaline myopathy - update 2015.
    Nowak KJ; Davis MR; Wallgren-Pettersson C; Lamont PJ; Laing NG
    Eur J Hum Genet; 2015 Nov; 23(11):. PubMed ID: 25712079
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.