BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

337 related articles for article (PubMed ID: 16606933)

  • 1. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
    Sinnreich M; Therrien C; Karpati G
    Neurology; 2006 Apr; 66(7):1114-6. PubMed ID: 16606933
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
    Diers A; Carl M; Stoltenburg-Didinger G; Vorgerd M; Spuler S
    Neuromuscul Disord; 2007 Feb; 17(2):157-62. PubMed ID: 17129727
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ; Frankhuizen WS; Barth PG; Howeler CJ; Padberg GW; Spaans F; Wintzen AR; Wokke JH; van Ommen GJ; de Visser M; Bakker E; Ginjaar HB
    Neurology; 2007 Jun; 68(24):2125-8. PubMed ID: 17562833
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I; De Luna N; Domínguez-Perles R; Rojas-García R; Paradas C; Palmer J; Márquez C; Gallano P; Gallardo E
    Neurology; 2007 Apr; 68(16):1284-9. PubMed ID: 17287450
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.
    Lostal W; Bartoli M; Bourg N; Roudaut C; Bentaïb A; Miyake K; Guerchet N; Fougerousse F; McNeil P; Richard I
    Hum Mol Genet; 2010 May; 19(10):1897-907. PubMed ID: 20154340
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP; Cooper ST; Evesson FJ; Seto JT; Chiotis M; Tay V; Compton AG; Cairns AG; Corbett A; MacArthur DG; Yang N; Reardon K; North KN
    Neuromuscul Disord; 2008 Jan; 18(1):34-44. PubMed ID: 17897828
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S; Hayashi YK; Goto K; Astejada MN; Murakami T; Nagato M; Ohta S; Daimon Y; Takekawa H; Hirata K; Nonaka I; Noguchi S; Nishino I
    Arch Neurol; 2007 Jul; 64(7):1038-41. PubMed ID: 17620497
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dysferlin and the plasma membrane repair in muscular dystrophy.
    Bansal D; Campbell KP
    Trends Cell Biol; 2004 Apr; 14(4):206-13. PubMed ID: 15066638
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.
    Paradas C; Llauger J; Diaz-Manera J; Rojas-García R; De Luna N; Iturriaga C; Márquez C; Usón M; Hankiewicz K; Gallardo E; Illa I
    Neurology; 2010 Jul; 75(4):316-23. PubMed ID: 20574037
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.
    Kesper K; Kornblum C; Reimann J; Lutterbey G; Schröder R; Wattjes MP
    Acta Neurol Scand; 2009 Aug; 120(2):111-8. PubMed ID: 19154541
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
    Therrien C; Dodig D; Karpati G; Sinnreich M
    J Neurol Sci; 2006 Dec; 250(1-2):71-8. PubMed ID: 16996541
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
    Santos R; Oliveira J; Vieira E; Coelho T; Carneiro AL; Evangelista T; Dias C; Fortuna A; Geraldo A; Negrão L; Guimarães A; Bronze-da-Rocha E
    J Hum Genet; 2010 Aug; 55(8):546-9. PubMed ID: 20535123
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
    Wenzel K; Carl M; Perrot A; Zabojszcza J; Assadi M; Ebeling M; Geier C; Robinson PN; Kress W; Osterziel KJ; Spuler S
    Hum Mutat; 2006 Jun; 27(6):599-600. PubMed ID: 16705711
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease.
    Fuschillo S; Torrente Y; Balzano G
    Respir Care; 2010 Aug; 55(8):1091-3. PubMed ID: 20667157
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
    Nguyen K; Bassez G; Bernard R; Krahn M; Labelle V; Figarella-Branger D; Pouget J; Hammouda el H; Béroud C; Urtizberea A; Eymard B; Leturcq F; Lévy N
    Hum Mutat; 2005 Aug; 26(2):165. PubMed ID: 16010686
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Autosomal recessive limb-girdle muscular dystrophy].
    Hernández-Caballero ME; Miranda-Duarte A; Escobar-Cedillo RE; Villegas-Castrejon H
    Rev Neurol; 2010 Oct; 51(8):489-96. PubMed ID: 20925031
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier.
    Gáti I; Danielsson O; Gunnarsson C; Vrethem M; Häggqvist B; Fredriksson BA; Landtblom AM
    Eur Neurol; 2012; 67(5):300-2. PubMed ID: 22517428
    [No Abstract]   [Full Text] [Related]  

  • 19. New aspects on patients affected by dysferlin deficient muscular dystrophy.
    Klinge L; Aboumousa A; Eagle M; Hudson J; Sarkozy A; Vita G; Charlton R; Roberts M; Straub V; Barresi R; Lochmüller H; Bushby K
    J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):946-53. PubMed ID: 19528035
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of dysferlinopathy presenting choreic movements.
    Takahashi T; Aoki M; Imai T; Yoshioka M; Konno H; Higano S; Onodera Y; Saito H; Kimura I; Itoyama Y
    Mov Disord; 2006 Sep; 21(9):1513-5. PubMed ID: 16817213
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.