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]