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 *

289 related articles for article (PubMed ID: 11257470)

  • 1. 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]  

  • 2. 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]  

  • 3. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
    Pelin K; Hilpelä P; Donner K; Sewry C; Akkari PA; Wilton SD; Wattanasirichaigoon D; Bang ML; Centner T; Hanefeld F; Odent S; Fardeau M; Urtizberea JA; Muntoni F; Dubowitz V; Beggs AH; Laing NG; Labeit S; de la Chapelle A; Wallgren-Pettersson C
    Proc Natl Acad Sci U S A; 1999 Mar; 96(5):2305-10. PubMed ID: 10051637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
    Gurgel-Giannetti J; Bang ML; Reed U; Marie S; Zatz M; Labeit S; Vainzof M
    Muscle Nerve; 2002 May; 25(5):747-752. PubMed ID: 11994971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
    Li F; Buck D; De Winter J; Kolb J; Meng H; Birch C; Slater R; Escobar YN; Smith JE; Yang L; Konhilas J; Lawlor MW; Ottenheijm C; Granzier HL
    Hum Mol Genet; 2015 Sep; 24(18):5219-33. PubMed ID: 26123491
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
    Wallgren-Pettersson C; Pelin K; Hilpelä P; Donner K; Porfirio B; Graziano C; Swoboda KJ; Fardeau M; Urtizberea JA; Muntoni F; Sewry C; Dubowitz V; Iannaccone S; Minetti C; Pedemonte M; Seri M; Cusano R; Lammens M; Castagna-Sloane A; Beggs AH; Laing NG; de la Chapelle A
    Neuromuscul Disord; 1999 Dec; 9(8):564-72. PubMed ID: 10619714
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.
    Gurgel-Giannetti J; Reed UC; Marie SK; Zanoteli E; Fireman MA; Oliveira AS; Werneck LC; Beggs AH; Zatz M; Vainzof M
    J Child Neurol; 2003 Mar; 18(3):235-40. PubMed ID: 12731651
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
    Pelin K; Ridanpää M; Donner K; Wilton S; Krishnarajah J; Laing N; Kolmerer B; Millevoi S; Labeit S; de la Chapelle A; Wallgren-Petterson C
    Eur J Hum Genet; 1997; 5(4):229-34. PubMed ID: 9359044
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
    Yamamoto DL; Vitiello C; Zhang J; Gokhin DS; Castaldi A; Coulis G; Piaser F; Filomena MC; Eggenhuizen PJ; Kunderfranco P; Camerini S; Takano K; Endo T; Crescenzi M; Luther PK; Lieber RL; Chen J; Bang ML
    J Cell Sci; 2013 Dec; 126(Pt 23):5477-89. PubMed ID: 24046450
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
    Lehtokari VL; Pelin K; Herczegfalvi A; Karcagi V; Pouget J; Franques J; Pellissier JF; Figarella-Branger D; von der Hagen M; Huebner A; Schoser B; Lochmüller H; Wallgren-Pettersson C
    Neuromuscul Disord; 2011 Aug; 21(8):556-62. PubMed ID: 21724397
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
    Wallgren-Pettersson C; Donner K; Sewry C; Bijlsma E; Lammens M; Bushby K; Giovannucci Uzielli ML; Lapi E; Odent S; Akcoren Z; Topaloğlu H; Pelin K
    Neuromuscul Disord; 2002 Oct; 12(7-8):674-9. PubMed ID: 12207937
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
    de Winter JM; Buck D; Hidalgo C; Jasper JR; Malik FI; Clarke NF; Stienen GJ; Lawlor MW; Beggs AH; Ottenheijm CA; Granzier H
    J Med Genet; 2013 Jun; 50(6):383-92. PubMed ID: 23572184
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
    Malfatti E; Lehtokari VL; Böhm J; De Winter JM; Schäffer U; Estournet B; Quijano-Roy S; Monges S; Lubieniecki F; Bellance R; Viou MT; Madelaine A; Wu B; Taratuto AL; Eymard B; Pelin K; Fardeau M; Ottenheijm CA; Wallgren-Pettersson C; Laporte J; Romero NB
    Acta Neuropathol Commun; 2014 Apr; 2():44. PubMed ID: 24725366
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
    Wallgren-Pettersson C; Pelin K; Nowak KJ; Muntoni F; Romero NB; Goebel HH; North KN; Beggs AH; Laing NG;
    Neuromuscul Disord; 2004 Sep; 14(8-9):461-70. PubMed ID: 15336686
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
    Ottenheijm CA; Buck D; de Winter JM; Ferrara C; Piroddi N; Tesi C; Jasper JR; Malik FI; Meng H; Stienen GJ; Beggs AH; Labeit S; Poggesi C; Lawlor MW; Granzier H
    Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
    Sztal TE; McKaige EA; Williams C; Oorschot V; Ramm G; Bryson-Richardson RJ
    Acta Neuropathol Commun; 2018 May; 6(1):40. PubMed ID: 29848386
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
    Karimi E; Gohlke J; van der Borgh M; Lindqvist J; Hourani Z; Kolb J; Cossette S; Lawlor MW; Ottenheijm C; Granzier H
    Acta Neuropathol; 2024 Apr; 147(1):72. PubMed ID: 38634969
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Nebulin--a giant chameleon.
    Pelin K; Wallgren-Pettersson C
    Adv Exp Med Biol; 2008; 642():28-39. PubMed ID: 19181091
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NEB-related core-rod myopathy with distinct clinical and pathological features.
    Park YE; Shin JH; Kang B; Lee CH; Kim DS
    Muscle Nerve; 2016 Mar; 53(3):479-84. PubMed ID: 26562614
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.