BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 24507666)

  • 1. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
    Citirak G; Witting N; Duno M; Werlauff U; Petri H; Vissing J
    Neuromuscul Disord; 2014 Apr; 24(4):325-30. PubMed ID: 24507666
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in TPM3 are a common cause of congenital fiber type disproportion.
    Clarke NF; Kolski H; Dye DE; Lim E; Smith RL; Patel R; Fahey MC; Bellance R; Romero NB; Johnson ES; Labarre-Vila A; Monnier N; Laing NG; North KN
    Ann Neurol; 2008 Mar; 63(3):329-37. PubMed ID: 18300303
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
    Marttila M; Lehtokari VL; Marston S; Nyman TA; Barnerias C; Beggs AH; Bertini E; Ceyhan-Birsoy O; Cintas P; Gerard M; Gilbert-Dussardier B; Hogue JS; Longman C; Eymard B; Frydman M; Kang PB; Klinge L; Kolski H; Lochmüller H; Magy L; Manel V; Mayer M; Mercuri E; North KN; Peudenier-Robert S; Pihko H; Probst FJ; Reisin R; Stewart W; Taratuto AL; de Visser M; Wilichowski E; Winer J; Nowak K; Laing NG; Winder TL; Monnier N; Clarke NF; Pelin K; Grönholm M; Wallgren-Pettersson C
    Hum Mutat; 2014 Jul; 35(7):779-90. PubMed ID: 24692096
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel TPM3 mutation in a family with cap myopathy and review of the literature.
    Schreckenbach T; Schröder JM; Voit T; Abicht A; Neuen-Jacob E; Roos A; Bulst S; Kuhl C; Schulz JB; Weis J; Claeys KG
    Neuromuscul Disord; 2014 Feb; 24(2):117-24. PubMed ID: 24239060
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
    Lawlor MW; Dechene ET; Roumm E; Geggel AS; Moghadaszadeh B; Beggs AH
    Hum Mutat; 2010 Feb; 31(2):176-83. PubMed ID: 19953533
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
    Malfatti E; Schaeffer U; Chapon F; Yang Y; Eymard B; Xu R; Laporte J; Romero NB
    Neuromuscul Disord; 2013 Dec; 23(12):992-7. PubMed ID: 24095155
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in TPM2 and congenital fibre type disproportion.
    Clarke NF; Waddell LB; Sie LT; van Bon BW; McLean C; Clark D; Kornberg A; Lammens M; North KN
    Neuromuscul Disord; 2012 Nov; 22(11):955-8. PubMed ID: 22832343
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
    Ohlsson M; Quijano-Roy S; Darin N; Brochier G; Lacène E; Avila-Smirnow D; Fardeau M; Oldfors A; Tajsharghi H
    Neurology; 2008 Dec; 71(23):1896-901. PubMed ID: 19047562
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
    Wallgren-Pettersson C; Jokela M; Lehtokari VL; Tyynismaa H; Sainio MT; Ylikallio E; Tynninen O; Pelin K; Auranen M
    Neuromuscul Disord; 2024 Feb; 35():29-32. PubMed ID: 38219297
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myopathies associated with β-tropomyosin mutations.
    Tajsharghi H; Ohlsson M; Palm L; Oldfors A
    Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
    Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
    Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Congenital fiber type disproportion myopathy caused by LMNA mutations.
    Kajino S; Ishihara K; Goto K; Ishigaki K; Noguchi S; Nonaka I; Osawa M; Nishino I; Hayashi YK
    J Neurol Sci; 2014 May; 340(1-2):94-8. PubMed ID: 24642510
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
    Moreno CAM; Estephan EP; Fappi A; Monges S; Lubieniecki F; Lopes Abath Neto O; Reed UC; Donkervoort S; Harms MB; Bonnemann C; Zanoteli E
    Neuromuscul Disord; 2020 Jan; 30(1):54-58. PubMed ID: 31866162
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
    Bevilacqua JA; Contreras JP; Trangulao A; Hernández Ú; Brochier G; Díaz J; Hughes R; Campero M; Romero NB
    Neuromuscul Disord; 2022 Aug; 32(8):687-691. PubMed ID: 35688744
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
    Munot P; Lashley D; Jungbluth H; Feng L; Pitt M; Robb SA; Palace J; Jayawant S; Kennet R; Beeson D; Cullup T; Abbs S; Laing N; Sewry C; Muntoni F
    Neuromuscul Disord; 2010 Dec; 20(12):796-800. PubMed ID: 20951040
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
    Witting N; Werlauff U; Duno M; Vissing J
    Muscle Nerve; 2016 Mar; 53(3):388-93. PubMed ID: 26172852
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
    Jarraya M; Quijano-Roy S; Monnier N; Béhin A; Avila-Smirnov D; Romero NB; Allamand V; Richard P; Barois A; May A; Estournet B; Mercuri E; Carlier PG; Carlier RY
    Neuromuscul Disord; 2012 Oct; 22 Suppl 2():S137-47. PubMed ID: 22980765
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.