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 *

253 related articles for article (PubMed ID: 12899871)

  • 1. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.
    Schröder R; Reimann J; Salmikangas P; Clemen CS; Hayashi YK; Nonaka I; Arahata K; Carpén O
    Neuromuscul Disord; 2003 Aug; 13(6):451-5. PubMed ID: 12899871
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myotilin: a prominent marker of myofibrillar remodelling.
    Carlsson L; Yu JG; Moza M; Carpén O; Thornell LE
    Neuromuscul Disord; 2007 Jan; 17(1):61-8. PubMed ID: 17056257
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
    Salmikangas P; van der Ven PF; Lalowski M; Taivainen A; Zhao F; Suila H; Schröder R; Lappalainen P; Fürst DO; Carpén O
    Hum Mol Genet; 2003 Jan; 12(2):189-203. PubMed ID: 12499399
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myotilin is mutated in limb girdle muscular dystrophy 1A.
    Hauser MA; Horrigan SK; Salmikangas P; Torian UM; Viles KD; Dancel R; Tim RW; Taivainen A; Bartoloni L; Gilchrist JM; Stajich JM; Gaskell PC; Gilbert JR; Vance JM; Pericak-Vance MA; Carpen O; Westbrook CA; Speer MC
    Hum Mol Genet; 2000 Sep; 9(14):2141-7. PubMed ID: 10958653
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
    Garvey SM; Miller SE; Claflin DR; Faulkner JA; Hauser MA
    Hum Mol Genet; 2006 Aug; 15(15):2348-62. PubMed ID: 16801328
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
    Gontier Y; Taivainen A; Fontao L; Sonnenberg A; van der Flier A; Carpen O; Faulkner G; Borradori L
    J Cell Sci; 2005 Aug; 118(Pt 16):3739-49. PubMed ID: 16076904
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
    Salmikangas P; Mykkänen OM; Grönholm M; Heiska L; Kere J; Carpén O
    Hum Mol Genet; 1999 Jul; 8(7):1329-36. PubMed ID: 10369880
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism.
    Shafi NB; Parker JC; Atkinson JB; Parker JR
    Ann Clin Lab Sci; 2007; 37(2):177-81. PubMed ID: 17522375
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Telethonin protein expression in neuromuscular disorders.
    Vainzof M; Moreira ES; Suzuki OT; Faulkner G; Valle G; Beggs AH; Carpen O; Ribeiro AF; Zanoteli E; Gurgel-Gianneti J; Tsanaclis AM; Silva HC; Passos-Bueno MR; Zatz M
    Biochim Biophys Acta; 2002 Oct; 1588(1):33-40. PubMed ID: 12379311
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nebulin expression in patients with nemaline myopathy.
    Gurgel-Giannetti J; Reed U; Bang ML; Pelin K; Donner K; Marie SK; Carvalho M; Fireman MA; Zanoteli E; Oliveira AS; Zatz M; Wallgren-Pettersson C; Labeit S; Vainzof M
    Neuromuscul Disord; 2001 Mar; 11(2):154-62. PubMed ID: 11257471
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
    Sewry CA; Brown SC; Pelin K; Jungbluth H; Wallgren-Pettersson C; Labeit S; Manzur A; Muntoni F
    Neuromuscul Disord; 2001 Mar; 11(2):146-53. PubMed ID: 11257470
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital myopathies.
    Bruno C; Minetti C
    Curr Neurol Neurosci Rep; 2004 Jan; 4(1):68-73. PubMed ID: 14683632
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of mouse myotilin and its promoter.
    Mologni L; Moza M; Lalowski MM; Carpén O
    Biochem Biophys Res Commun; 2005 Apr; 329(3):1001-9. PubMed ID: 15752755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. myotilin Mutation found in second pedigree with LGMD1A.
    Hauser MA; Conde CB; Kowaljow V; Zeppa G; Taratuto AL; Torian UM; Vance J; Pericak-Vance MA; Speer MC; Rosa AL
    Am J Hum Genet; 2002 Dec; 71(6):1428-32. PubMed ID: 12428213
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A.
    Mologni L; Salmikangas P; Fougerousse F; Beckmann JS; Carpén O
    Mech Dev; 2001 May; 103(1-2):121-5. PubMed ID: 11335118
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S; Mitsuhashi H; Matsuda C; Minami N; Noguchi S; Nonaka I; Nishino I; Hayashi YK
    J Neuropathol Exp Neurol; 2009 Jun; 68(6):701-7. PubMed ID: 19458539
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Monnier N; Romero NB; Lerale J; Nivoche Y; Qi D; MacLennan DH; Fardeau M; Lunardi J
    Hum Mol Genet; 2000 Nov; 9(18):2599-608. PubMed ID: 11063719
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin.
    van der Ven PF; Wiesner S; Salmikangas P; Auerbach D; Himmel M; Kempa S; Hayess K; Pacholsky D; Taivainen A; Schröder R; Carpén O; Fürst DO
    J Cell Biol; 2000 Oct; 151(2):235-48. PubMed ID: 11038172
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
    Unger A; Beckendorf L; Böhme P; Kley R; von Frieling-Salewsky M; Lochmüller H; Schröder R; Fürst DO; Vorgerd M; Linke WA
    Acta Neuropathol Commun; 2017 Sep; 5(1):72. PubMed ID: 28915917
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.