137 related articles for article (PubMed ID: 16542520)
1. Early onset calpainopathy with normal non-functional calpain 3 level.
Lanzillo R; Aurino S; Fanin M; Aguennoz M; Vitale F; Fiorillo C; Del Giudice E; Nigro V; Santoro L
Dev Med Child Neurol; 2006 Apr; 48(4):304-6. PubMed ID: 16542520
[TBL] [Abstract][Full Text] [Related]
2. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A; Leturcq F; Cobo AM; Poza JJ; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan JC; Urtizberea JA; Martí-Massó JF; López de Munain A
Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
[TBL] [Abstract][Full Text] [Related]
3. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M; Fulizio L; Nascimbeni AC; Spinazzi M; Piluso G; Ventriglia VM; Ruzza G; Siciliano G; Trevisan CP; Politano L; Nigro V; Angelini C
Hum Mutat; 2004 Jul; 24(1):52-62. PubMed ID: 15221789
[TBL] [Abstract][Full Text] [Related]
4. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
[TBL] [Abstract][Full Text] [Related]
5. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Fanin M; Nascimbeni AC; Angelini C
J Med Genet; 2007 Jan; 44(1):38-43. PubMed ID: 16971480
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
Vissing J; Dahlqvist JR; Roudaut C; Poupiot J; Richard I; Duno M; Krag T
Hum Mutat; 2020 Sep; 41(9):1507-1513. PubMed ID: 32557990
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ; Charlton R; Barresi R; Anderson LV; Eagle M; Hudson J; Koref MS; Straub V; Bushby KM
Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493
[TBL] [Abstract][Full Text] [Related]
10. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P; Sharma MC; Jha P; Sarkar C; Faruq M; Jha P; Suri V; Bhatia R; Singh S; Gulati S; Husain M
J Neuromuscul Dis; 2021; 8(1):125-136. PubMed ID: 33337384
[TBL] [Abstract][Full Text] [Related]
11. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Duno M; Sveen ML; Schwartz M; Vissing J
Eur J Hum Genet; 2008 Aug; 16(8):935-40. PubMed ID: 18337726
[TBL] [Abstract][Full Text] [Related]
12. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
Chrobáková T; Hermanová M; Kroupová I; Vondrácek P; Maríková T; Mazanec R; Zámecník J; Stanek J; Havlová M; Fajkusová L
Neuromuscul Disord; 2004 Oct; 14(10):659-65. PubMed ID: 15351423
[TBL] [Abstract][Full Text] [Related]
13. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Pathak P; Sharma MC; Sarkar C; Jha P; Suri V; Mohd H; Singh S; Bhatia R; Gulati S
Neurol India; 2010; 58(4):549-54. PubMed ID: 20739790
[TBL] [Abstract][Full Text] [Related]
14. A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
Martinez-Thompson JM; Moore SA; Liewluck T
J Clin Neurosci; 2018 Jul; 53():229-231. PubMed ID: 29685414
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Blázquez L; Azpitarte M; Sáenz A; Goicoechea M; Otaegui D; Ferrer X; Illa I; Gutierrez-Rivas E; Vilchez JJ; López de Munain A
Neurogenetics; 2008 Jul; 9(3):173-82. PubMed ID: 18563459
[TBL] [Abstract][Full Text] [Related]
17. 550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.
Georgieva B; Todorova A; Tournev I; Mitev V; Plageras P; Kremensky I
Am J Med Genet A; 2005 Aug; 136A(4):399-400. PubMed ID: 16001438
[No Abstract] [Full Text] [Related]
18. Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Rekik S; Sakka S; Ben Romdhan S; Farhat N; Baba Amer Y; Lehkim L; Authier FJ; Mhiri C
J Mol Neurosci; 2019 Dec; 69(4):563-569. PubMed ID: 31410652
[TBL] [Abstract][Full Text] [Related]
19. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
Pantoja-Melendez CA; Miranda-Duarte A; Roque-Ramirez B; Zenteno JC
PLoS One; 2017; 12(1):e0170280. PubMed ID: 28103310
[TBL] [Abstract][Full Text] [Related]
20. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M; Nascimbeni AC; Tasca E; Angelini C
Eur J Hum Genet; 2009 May; 17(5):598-603. PubMed ID: 18854869
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
