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 *

214 related articles for article (PubMed ID: 20571043)

  • 1. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.
    Pénisson-Besnier I; Hackman P; Suominen T; Sarparanta J; Huovinen S; Richard-Crémieux I; Udd B
    J Neurol Neurosurg Psychiatry; 2010 Nov; 81(11):1200-2. PubMed ID: 20571043
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B; Vihola A; Sarparanta J; Richard I; Hackman P
    Neurology; 2005 Feb; 64(4):636-42. PubMed ID: 15728284
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
    Charton K; Sarparanta J; Vihola A; Milic A; Jonson PH; Suel L; Luque H; Boumela I; Richard I; Udd B
    Hum Mol Genet; 2015 Jul; 24(13):3718-31. PubMed ID: 25877298
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
    Harris E; Töpf A; Vihola A; Evilä A; Barresi R; Hudson J; Hackman P; Herron B; MacArthur D; Lochmüller H; Bushby K; Udd B; Straub V
    Neuromuscul Disord; 2017 Nov; 27(11):1009-1017. PubMed ID: 28716623
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
    Hackman P; Vihola A; Haravuori H; Marchand S; Sarparanta J; De Seze J; Labeit S; Witt C; Peltonen L; Richard I; Udd B
    Am J Hum Genet; 2002 Sep; 71(3):492-500. PubMed ID: 12145747
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
    Charton K; Danièle N; Vihola A; Roudaut C; Gicquel E; Monjaret F; Tarrade A; Sarparanta J; Udd B; Richard I
    Hum Mol Genet; 2010 Dec; 19(23):4608-24. PubMed ID: 20855473
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
    Peddareddygari LR; Surgan V; Grewal RP
    J Clin Neuromuscul Dis; 2010 Dec; 12(2):62-5. PubMed ID: 21386772
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
    Zheng W; Chen H; Deng X; Yuan L; Yang Y; Song Z; Yang Z; Wu Y; Deng H
    Mol Neurobiol; 2016 Oct; 53(8):5097-102. PubMed ID: 26392295
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
    Rosas-Vargas H; Gómez-Díaz B; Ruano-Calderón L; Fernández-Valverde F; Roque-Ramírez B; Portillo-Bobadilla T; Ordoñez-Razo RM; Minauro-Sanmiguel F; Coral-Vázquez R
    Genet Test; 2007; 11(4):391-6. PubMed ID: 18294055
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
    Haravuori H; Vihola A; Straub V; Auranen M; Richard I; Marchand S; Voit T; Labeit S; Somer H; Peltonen L; Beckmann JS; Udd B
    Neurology; 2001 Apr; 56(7):869-77. PubMed ID: 11294923
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
    Al-Harbi TM; Abdulmanaʼ SO; Dridi W
    J Clin Neuromuscul Dis; 2016 Dec; 18(2):89-91. PubMed ID: 27861222
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
    Jenne DE; Kley RA; Vorgerd M; Schröder JM; Weis J; Reimann H; Albrecht B; Nürnberg P; Thiele H; Müller CR; Meng G; Witt CC; Labeit S
    Biol Chem; 2005 Jan; 386(1):61-7. PubMed ID: 15843148
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
    Huebsch KA; Kudryashova E; Wooley CM; Sher RB; Seburn KL; Spencer MJ; Cox GA
    Hum Mol Genet; 2005 Oct; 14(19):2801-11. PubMed ID: 16115818
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Atypical phenotypes in titinopathies explained by second titin mutations.
    Evilä A; Vihola A; Sarparanta J; Raheem O; Palmio J; Sandell S; Eymard B; Illa I; Rojas-Garcia R; Hankiewicz K; Negrão L; Löppönen T; Nokelainen P; Kärppä M; Penttilä S; Screen M; Suominen T; Richard I; Hackman P; Udd B
    Ann Neurol; 2014 Feb; 75(2):230-40. PubMed ID: 24395473
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
    Reilich P; Krause S; Schramm N; Klutzny U; Bulst S; Zehetmayer B; Schneiderat P; Walter MC; Schoser B; Lochmüller H
    J Neurol; 2011 Aug; 258(8):1437-44. PubMed ID: 21336781
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.
    Angelini C
    Acta Myol; 2004 Dec; 23(3):130-6. PubMed ID: 15938568
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
    Khan A; Wang R; Han S; Umair M; Abbas S; Khan MI; Alshabeeb MA; Alfadhel M; Zhang X
    BMC Med Genet; 2019 Oct; 20(1):166. PubMed ID: 31664938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
    Sarparanta J; Blandin G; Charton K; Vihola A; Marchand S; Milic A; Hackman P; Ehler E; Richard I; Udd B
    J Biol Chem; 2010 Sep; 285(39):30304-15. PubMed ID: 20634290
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myotilinopathy in a family with late onset myopathy.
    Pénisson-Besnier I; Talvinen K; Dumez C; Vihola A; Dubas F; Fardeau M; Hackman P; Carpen O; Udd B
    Neuromuscul Disord; 2006 Jul; 16(7):427-31. PubMed ID: 16793270
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.