BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 8661728)

  • 1. Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human.
    Richard I; Beckmann JS
    Mamm Genome; 1996 May; 7(5):377-9. PubMed ID: 8661728
    [No Abstract]   [Full Text] [Related]  

  • 2. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
    Mercuri E; Bushby K; Ricci E; Birchall D; Pane M; Kinali M; Allsop J; Nigro V; Sáenz A; Nascimbeni A; Fulizio L; Angelini C; Muntoni F
    Neuromuscul Disord; 2005 Feb; 15(2):164-71. PubMed ID: 15694138
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
    Richard I; Brenguier L; Dinçer P; Roudaut C; Bady B; Burgunder JM; Chemaly R; Garcia CA; Halaby G; Jackson CE; Kurnit DM; Lefranc G; Legum C; Loiselet J; Merlini L; Nivelon-Chevallier A; Ollagnon-Roman E; Restagno G; Topaloglu H; Beckmann JS
    Am J Hum Genet; 1997 May; 60(5):1128-38. PubMed ID: 9150160
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
    Richard I; Broux O; Allamand V; Fougerousse F; Chiannilkulchai N; Bourg N; Brenguier L; Devaud C; Pasturaud P; Roudaut C
    Cell; 1995 Apr; 81(1):27-40. PubMed ID: 7720071
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
    Jia Z; Petrounevitch V; Wong A; Moldoveanu T; Davies PL; Elce JS; Beckmann JS
    Biophys J; 2001 Jun; 80(6):2590-6. PubMed ID: 11371436
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Calpain-related diseases.
    Branca D
    Biochem Biophys Res Commun; 2004 Oct; 322(4):1098-104. PubMed ID: 15336956
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
    Anderson LV; Harrison RM; Pogue R; Vafiadaki E; Pollitt C; Davison K; Moss JA; Keers S; Pyle A; Shaw PJ; Mahjneh I; Argov Z; Greenberg CR; Wrogemann K; Bertorini T; Goebel HH; Beckmann JS; Bashir R; Bushby KM
    Neuromuscul Disord; 2000 Dec; 10(8):553-9. PubMed ID: 11053681
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A.
    Sorimachi H; Ono Y; Suzuki K
    Methods Mol Biol; 2000; 144():75-84. PubMed ID: 10818750
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Titinopathies: what happens when a big gene mutates in a big family?
    Selcen D; Bushby K
    Neurology; 2005 Feb; 64(4):596-7. PubMed ID: 15728278
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
    Kramerova I; Beckmann JS; Spencer MJ
    Biochim Biophys Acta; 2007 Feb; 1772(2):128-44. PubMed ID: 16934440
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C; Mancuso M; Galli R; Choub A; Fanin M; Nascimbeni AC; Siciliano G; Murri L
    Neurol Sci; 2006 Jun; 27(2):134-6. PubMed ID: 16816913
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
    Fanin M; Angelini C
    Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
    Anderson LV; Davison K; Moss JA; Richard I; Fardeau M; Tomé FM; Hübner C; Lasa A; Colomer J; Beckmann JS
    Am J Pathol; 1998 Oct; 153(4):1169-79. PubMed ID: 9777948
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
    Fanin M; Nascimbeni AC; Fulizio L; Angelini C
    Neuromuscul Disord; 2005 Mar; 15(3):218-24. PubMed ID: 15725583
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.
    Bushby KM
    Hum Mol Genet; 1999; 8(10):1875-82. PubMed ID: 10469840
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
    Bashir R; Britton S; Strachan T; Keers S; Vafiadaki E; Lako M; Richard I; Marchand S; Bourg N; Argov Z; Sadeh M; Mahjneh I; Marconi G; Passos-Bueno MR; Moreira Ede S; Zatz M; Beckmann JS; Bushby K
    Nat Genet; 1998 Sep; 20(1):37-42. PubMed ID: 9731527
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
    Moreira ES; Wiltshire TJ; Faulkner G; Nilforoushan A; Vainzof M; Suzuki OT; Valle G; Reeves R; Zatz M; Passos-Bueno MR; Jenne DE
    Nat Genet; 2000 Feb; 24(2):163-6. PubMed ID: 10655062
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.