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 *

133 related articles for article (PubMed ID: 12235836)

  • 41. 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]  

  • 42. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
    Cagliani R; Magri F; Toscano A; Merlini L; Fortunato F; Lamperti C; Rodolico C; Prelle A; Sironi M; Aguennouz M; Ciscato P; Uncini A; Moggio M; Bresolin N; Comi GP
    Hum Mutat; 2005 Sep; 26(3):283. PubMed ID: 16100712
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I; Kamoun F; Louhichi N; Rouis S; Mziou M; Fendri-Kriaa N; Makni-Ayadi F; Triki C; Fakhfakh F
    Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Limb-girdle muscular dystrophies--from genetics to molecular pathology.
    Laval SH; Bushby KM
    Neuropathol Appl Neurobiol; 2004 Apr; 30(2):91-105. PubMed ID: 15043707
    [TBL] [Abstract][Full Text] [Related]  

  • 46. High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
    Pogoda TV; Krakhmaleva IN; Lipatova NA; Shakhovskaya NI; Shishkin SS; Limborska SA
    Hum Mutat; 2000 Mar; 15(3):295. PubMed ID: 10679950
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
    Ho M; Post CM; Donahue LR; Lidov HG; Bronson RT; Goolsby H; Watkins SC; Cox GA; Brown RH
    Hum Mol Genet; 2004 Sep; 13(18):1999-2010. PubMed ID: 15254015
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.
    Prelle A; Sciacco M; Tancredi L; Fagiolari G; Comi GP; Ciscato P; Serafini M; Fortunato F; Zecca C; Gallanti A; Chiveri L; Bresolin N; Scarlato G; Moggio M
    Acta Neuropathol; 2003 Jun; 105(6):537-42. PubMed ID: 12734659
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.
    Straub V; Bushby K
    Neurotherapeutics; 2008 Oct; 5(4):619-26. PubMed ID: 19019315
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
    Nguyen K; Bassez G; Krahn M; Bernard R; Laforêt P; Labelle V; Urtizberea JA; Figarella-Branger D; Romero N; Attarian S; Leturcq F; Pouget J; Lévy N; Eymard B
    Arch Neurol; 2007 Aug; 64(8):1176-82. PubMed ID: 17698709
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 53. 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]  

  • 54. Update on the genetics of limb girdle muscular dystrophy.
    Mitsuhashi S; Kang PB
    Semin Pediatr Neurol; 2012 Dec; 19(4):211-8. PubMed ID: 23245554
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex.
    Galbiati F; Volonte D; Minetti C; Chu JB; Lisanti MP
    J Biol Chem; 1999 Sep; 274(36):25632-41. PubMed ID: 10464299
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Dysferlin and muscular dystrophy.
    Bushby KM
    Acta Neurol Belg; 2000 Sep; 100(3):142-5. PubMed ID: 11098285
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
    Beckmann JS; Richard I; Broux O; Fougerousse F; Allamand V; Chiannilkulchai N; Lim LE; Duclos F; Bourg N; Brenguier L; Pasturaud P; Quétier F; Roudaut C; Sunada Y; Meyer J; Dinçer P; Lefranc G; Merlini L; Topaloglu H; Tomé FM; Cohen D; Jackson CE; Campbell KP; Fardeau M
    Neuromuscul Disord; 1996 Dec; 6(6):455-62. PubMed ID: 9027855
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.
    Piccolo F; Moore SA; Ford GC; Campbell KP
    Ann Neurol; 2000 Dec; 48(6):902-12. PubMed ID: 11117547
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
    Nigro V; Savarese M
    Acta Myol; 2014 May; 33(1):1-12. PubMed ID: 24843229
    [TBL] [Abstract][Full Text] [Related]  

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