125 related articles for article (PubMed ID: 15641596)
1. Dysferlinopathy associated with rigid spine syndrome.
Nagashima T; Chuma T; Mano Y; Goto Y; Hayashi YK; Minami N; Nishino I; Nonaka I; Takahashi T; Sawa H; Aoki M; Nagashima K
Neuropathology; 2004 Dec; 24(4):341-6. PubMed ID: 15641596
[TBL] [Abstract][Full Text] [Related]
2. [A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].
Kuru S; Yasuma F; Wakayama T; Kimura S; Konagaya M; Aoki M; Tanabe M; Takahashi T
Rinsho Shinkeigaku; 2004 Jun; 44(6):375-8. PubMed ID: 15293763
[TBL] [Abstract][Full Text] [Related]
3. [Two sisters with dysferlinopathy manifesting different clinical phenotypes].
Chiba Y; Shinde A; Kohara N; Akiguchi I; Nakano S; Hayashi YK; Shibasaki H
Rinsho Shinkeigaku; 2003 Apr; 43(4):188-91. PubMed ID: 12884830
[TBL] [Abstract][Full Text] [Related]
4. Dysferlinopathy: a clinical and histopathological study of 28 patients from India.
Nalini A; Gayathri N
Neurol India; 2008; 56(3):379-85; discussion 386-7. PubMed ID: 18974568
[TBL] [Abstract][Full Text] [Related]
5. [Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases].
Ren SC; Yan CZ; Li MX; Liu SP; Wu JL; Zhao YY; Li W; Li DN
Zhonghua Yi Xue Za Zhi; 2007 Jun; 87(21):1486-90. PubMed ID: 17785089
[TBL] [Abstract][Full Text] [Related]
6. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
Tagawa K; Ogawa M; Kawabe K; Yamanaka G; Matsumura T; Goto K; Nonaka I; Nishino I; Hayashi YK
J Neurol Sci; 2003 Jul; 211(1-2):23-8. PubMed ID: 12767493
[TBL] [Abstract][Full Text] [Related]
7. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé FM; Guicheney P
Neuromuscul Disord; 1999 Oct; 9(6-7):376-82. PubMed ID: 10545040
[TBL] [Abstract][Full Text] [Related]
8. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.
Mahjneh I; Marconi G; Bushby K; Anderson LV; Tolvanen-Mahjneh H; Somer H
Neuromuscul Disord; 2001 Jan; 11(1):20-6. PubMed ID: 11166162
[TBL] [Abstract][Full Text] [Related]
9. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
McNally EM; Ly CT; Rosenmann H; Mitrani Rosenbaum S; Jiang W; Anderson LV; Soffer D; Argov Z
Am J Med Genet; 2000 Apr; 91(4):305-12. PubMed ID: 10766988
[TBL] [Abstract][Full Text] [Related]
10. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Chiu YH; Hornsey MA; Klinge L; Jørgensen LH; Laval SH; Charlton R; Barresi R; Straub V; Lochmüller H; Bushby K
Hum Mol Genet; 2009 Jun; 18(11):1976-89. PubMed ID: 19286669
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.
Ueyama H; Kumamoto T; Nagao S; Masuda T; Horinouchi H; Fujimoto S; Tsuda T
Neuromuscul Disord; 2001 Mar; 11(2):139-45. PubMed ID: 11257469
[TBL] [Abstract][Full Text] [Related]
13. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
Illarioshkin SN; Ivanova-Smolenskaya IA; Greenberg CR; Nylen E; Sukhorukov VS; Poleshchuk VV; Markova ED; Wrogemann K
Neurology; 2000 Dec; 55(12):1931-3. PubMed ID: 11134403
[TBL] [Abstract][Full Text] [Related]
14. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
Illa I; Serrano-Munuera C; Gallardo E; Lasa A; Rojas-García R; Palmer J; Gallano P; Baiget M; Matsuda C; Brown RH
Ann Neurol; 2001 Jan; 49(1):130-4. PubMed ID: 11198284
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.
Bertini E; Marini R; Sabetta G; Palmieri GP; Spagnoli LG; Vaccario ML; de Barsy T
J Neurol; 1986 Aug; 233(4):248-53. PubMed ID: 3746364
[TBL] [Abstract][Full Text] [Related]
17. Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
Hofhuis J; Bersch K; Büssenschütt R; Drzymalski M; Liebetanz D; Nikolaev VO; Wagner S; Maier LS; Gärtner J; Klinge L; Thoms S
J Cell Sci; 2017 Mar; 130(5):841-852. PubMed ID: 28104817
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Defective membrane repair in dysferlin-deficient muscular dystrophy.
Bansal D; Miyake K; Vogel SS; Groh S; Chen CC; Williamson R; McNeil PL; Campbell KP
Nature; 2003 May; 423(6936):168-72. PubMed ID: 12736685
[TBL] [Abstract][Full Text] [Related]
20. Expression of myoferlin in skeletal muscles of patients with dysferlinopathy.
Inoue M; Wakayama Y; Kojima H; Shibuya S; Jimi T; Oniki H; Nishino I; Nonaka I
Tohoku J Exp Med; 2006 Jun; 209(2):109-16. PubMed ID: 16707852
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
