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Journal Abstract Search

166 related items for 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
    [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
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  • 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 19; 82(5):392-8. PubMed ID: 10069710
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  • 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 19; 56(8):624-6. PubMed ID: 12890817
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  • 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 19; 121 ( Pt 9)():1735-47. PubMed ID: 9762961
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  • 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 19; 128(Pt 4):732-42. PubMed ID: 15689361
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  • 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 19; 17(5):598-603. PubMed ID: 18854869
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  • 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 19; 76(5):731-41. PubMed ID: 15757244
    [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 19; 48(4):304-6. PubMed ID: 16542520
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  • 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 19; 21(11):1493-501. PubMed ID: 9771675
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  • 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 23; 52(5):1015-20. PubMed ID: 10102422
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  • 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 23; 11(3):287-96. PubMed ID: 11297944
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  • 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 23; 42(9):686-93. PubMed ID: 16141003
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  • 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 Sep 23; 47(3):214-22. PubMed ID: 23821418
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  • 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 01; 171(1):31-7. PubMed ID: 10567047
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