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 *

134 related articles for article (PubMed ID: 33741228)

  • 41. Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
    Cerino M; Campana-Salort E; Salvi A; Cintas P; Renard D; Juntas Morales R; Tard C; Leturcq F; Stojkovic T; Bonello-Palot N; Gorokhova S; Mortreux J; Maues De Paula A; Lévy N; Pouget J; Cossée M; Bartoli M; Krahn M; Attarian S
    Neuropathol Appl Neurobiol; 2020 Oct; 46(6):564-578. PubMed ID: 32342993
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
    Inashkina I; Jankevics E; Stavusis J; Vasiljeva I; Viksne K; Micule I; Strautmanis J; Naudina MS; Cimbalistiene L; Kucinskas V; Krumina A; Utkus A; Burnyte B; Matuleviciene A; Lace B
    BMC Musculoskelet Disord; 2016 May; 17():200. PubMed ID: 27142102
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Muscle pathology in 31 patients with calpain 3 gene mutations.
    Nadaj-Pakleza AA; Dorobek M; Nestorowicz K; Ryniewicz B; Szmidt-Sałkowska E; Kamińska AM
    Neurol Neurochir Pol; 2013; 47(3):214-22. PubMed ID: 23821418
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
    Perez F; Vital A; Martin-Negrier ML; Ferrer X; Sole G
    Rev Neurol (Paris); 2010 May; 166(5):502-8. PubMed ID: 20044116
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
    Toral-Ojeda I; Aldanondo G; Lasa-Elgarresta J; Lasa-Fernández H; Fernández-Torrón R; López de Munain A; Vallejo-Illarramendi A
    Expert Rev Mol Med; 2016 Apr; 18():e7. PubMed ID: 27055500
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.
    Landires I; Núñez-Samudio V; Fernandez J; Sarria C; Villareal V; Córdoba F; Apráez-Ippolito G; Martínez S; Vidal OM; Vélez JI; Arcos-Holzinger M; Landires S; Arcos-Burgos M
    Genes (Basel); 2020 Jan; 11(2):. PubMed ID: 31991774
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
    [TBL] [Abstract][Full Text] [Related]  

  • 49. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
    Mroczek M; Inashkina I; Stavusis J; Zayakin P; Khrunin A; Micule I; Kenina V; Zdanovica A; Zídková J; Fajkusová L; Limborska S; van der Kooi AJ; Brusse E; Leonardis L; Maver A; Pajusalu S; Õunap K; Puusepp S; Dobosz P; Sypniewski M; Burnyte B; Lace B
    Hum Mutat; 2022 Oct; 43(10):1347-1353. PubMed ID: 35731190
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
    Hu Y; Mohassel P; Donkervoort S; Yun P; Bolduc V; Ezzo D; Dastgir J; Marshall JL; Lek M; MacArthur DG; Foley AR; Bönnemann CG
    J Neuromuscul Dis; 2019; 6(4):475-483. PubMed ID: 31498126
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Clinical and pathological features in 15 Chinese patients with calpainopathy.
    Luo SS; Xi JY; Lu JH; Zhao CB; Zhu WH; Lin J; Wang Y; Ren HM; Yin B; Andoni UJ
    Muscle Nerve; 2011 Mar; 43(3):402-9. PubMed ID: 21321956
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.
    Mao B; Yang J; Zhao X; Jia X; Shi X; Zhao L; Banerjee S; Zhang L; Ma X
    Exp Ther Med; 2024 Mar; 27(3):97. PubMed ID: 38356676
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
    Şahin İO; Karataş E; Demir M; Tan B; Per H; Özkul Y; Dündar M
    Turk J Med Sci; 2024; 54(1):86-98. PubMed ID: 38812636
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
    Mojbafan M; Tonekaboni SH; Abiri M; Kianfar S; Sarhadi A; Nilipour Y; Tavakkoly-Bazzaz J; Zeinali S
    J Mol Neurosci; 2016 Jul; 59(3):392-6. PubMed ID: 27262448
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.
    DiFranco M; Kramerova I; Vergara JL; Spencer MJ
    Skelet Muscle; 2016; 6():11. PubMed ID: 26913171
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
    Oliveira Santos M; Ninitas P; Conceição I
    Neuromuscul Disord; 2018 Dec; 28(12):1003-1005. PubMed ID: 30415788
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
    Huang Y; de Morrée A; van Remoortere A; Bushby K; Frants RR; den Dunnen JT; van der Maarel SM
    Hum Mol Genet; 2008 Jun; 17(12):1855-66. PubMed ID: 18334579
    [TBL] [Abstract][Full Text] [Related]  

  • 59. An eccentric calpain, CAPN3/p94/calpain-3.
    Ono Y; Ojima K; Shinkai-Ouchi F; Hata S; Sorimachi H
    Biochimie; 2016 Mar; 122():169-87. PubMed ID: 26363099
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 7.