BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 12461690)

  • 1. Clinical variability in calpainopathy: what makes the difference?
    de Paula F; Vainzof M; Passos-Bueno MR; de Cássia M Pavanello R; Matioli SR; V B Anderson L; Nigro V; Zatz M
    Eur J Hum Genet; 2002 Dec; 10(12):825-32. PubMed ID: 12461690
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
    Passos-Bueno MR; Vainzof M; Moreira ES; Zatz M
    Am J Med Genet; 1999 Feb; 82(5):392-8. PubMed ID: 10069710
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
    Vainzof M; de Paula F; Tsanaclis AM; Zatz M
    J Clin Pathol; 2003 Aug; 56(8):624-6. PubMed ID: 12890817
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
    Urtasun M; Sáenz A; Roudaut C; Poza JJ; Urtizberea JA; Cobo AM; Richard I; García Bragado F; Leturcq F; Kaplan JC; Martí Massó JF; Beckmann JS; López de Munain A
    Brain; 1998 Sep; 121 ( Pt 9)():1735-47. PubMed ID: 9762961
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
    Chae J; Minami N; Jin Y; Nakagawa M; Murayama K; Igarashi F; Nonaka I
    Neuromuscul Disord; 2001 Sep; 11(6-7):547-55. PubMed ID: 11525884
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
    Cobo AM; Sáenz A; Poza JJ; Urtasun M; Indakoetxea B; Urtizberea JA; López de Munain A; Calafell F
    Hum Biol; 2004 Oct; 76(5):731-41. PubMed ID: 15757244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M; Zapletalová E; Sedlácková J; Chrobáková T; Letocha O; Kroupová I; Zámecník J; Vondrácek P; Mazanec R; Maríková T; Vohánka S; Fajkusová L
    Muscle Nerve; 2006 Mar; 33(3):424-32. PubMed ID: 16372320
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Calpainopathy-a survey of mutations and polymorphisms.
    Richard I; Roudaut C; Saenz A; Pogue R; Grimbergen JE; Anderson LV; Beley C; Cobo AM; de Diego C; Eymard B; Gallano P; Ginjaar HB; Lasa A; Pollitt C; Topaloglu H; Urtizberea JA; de Visser M; van der Kooi A; Bushby K; Bakker E; Lopez de Munain A; Fardeau M; Beckmann JS
    Am J Hum Genet; 1999 Jun; 64(6):1524-40. PubMed ID: 10330340
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
    Kawai H; Akaike M; Kunishige M; Inui T; Adachi K; Kimura C; Kawajiri M; Nishida Y; Endo I; Kashiwagi S; Nishino H; Fujiwara T; Okuno S; Roudaut C; Richard I; Beckmann JS; Miyoshi K; Matsumoto T
    Muscle Nerve; 1998 Nov; 21(11):1493-501. PubMed ID: 9771675
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
    Chou FL; Angelini C; Daentl D; Garcia C; Greco C; Hausmanowa-Petrusewicz I; Fidzianska A; Wessel H; Hoffman EP
    Neurology; 1999 Mar; 52(5):1015-20. PubMed ID: 10102422
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.
    Pollitt C; Anderson LV; Pogue R; Davison K; Pyle A; Bushby KM
    Neuromuscul Disord; 2001 Apr; 11(3):287-96. PubMed ID: 11297944
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
    Piluso G; Politano L; Aurino S; Fanin M; Ricci E; Ventriglia VM; Belsito A; Totaro A; Saccone V; Topaloglu H; Nascimbeni AC; Fulizio L; Broccolini A; Canki-Klain N; Comi LI; Nigro G; Angelini C; Nigro V
    J Med Genet; 2005 Sep; 42(9):686-93. PubMed ID: 16141003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
    Minami N; Nishino I; Kobayashi O; Ikezoe K; Goto Y; Nonaka I
    J Neurol Sci; 1999 Dec; 171(1):31-7. PubMed ID: 10567047
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.