188 related articles for article (PubMed ID: 9150160)
21. 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]
22. 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]
23. Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
Hanisch F; Müller CR; Grimm D; Xue L; Traufeller K; Merkenschlager A; Zierz S; Deschauer M
Clin Neuropathol; 2007; 26(4):157-63. PubMed ID: 17702496
[TBL] [Abstract][Full Text] [Related]
24. Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
Ramos E; Pardo S; Mas Rodríguez MF; Vélez J
J Clin Neuromuscul Dis; 2015 Dec; 17(2):59-62. PubMed ID: 26583491
[TBL] [Abstract][Full Text] [Related]
25. Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y; Shimada H; Sorimachi H; Richard I; Saido TC; Beckmann JS; Ishiura S; Suzuki K
J Biol Chem; 1998 Jul; 273(27):17073-8. PubMed ID: 9642272
[TBL] [Abstract][Full Text] [Related]
26. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
Weiler T; Greenberg CR; Zelinski T; Nylen E; Coghlan G; Crumley MJ; Fujiwara TM; Morgan K; Wrogemann K
Am J Hum Genet; 1998 Jul; 63(1):140-7. PubMed ID: 9634523
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
Allamand V; Broux O; Richard I; Fougerousse F; Chiannilkulchai N; Bourg N; Brenguier L; Devaud C; Pasturaud P; Pereira de Souza A
Am J Hum Genet; 1995 Jun; 56(6):1417-30. PubMed ID: 7762565
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Fanin M; Nascimbeni AC; Fulizio L; Trevisan CP; Meznaric-Petrusa M; Angelini C
Am J Pathol; 2003 Nov; 163(5):1929-36. PubMed ID: 14578192
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Calpainopathy-a survey of mutations and polymorphisms.
Richard I; Roudaut C; Saenz A; Pogue R; Grimbergen JE; Anderson LV; Beley C; Cobo AM; de Diego C; Eymard B; Gallano P; Ginjaar HB; Lasa A; Pollitt C; Topaloglu H; Urtizberea JA; de Visser M; van der Kooi A; Bushby K; Bakker E; Lopez de Munain A; Fardeau M; Beckmann JS
Am J Hum Genet; 1999 Jun; 64(6):1524-40. PubMed ID: 10330340
[TBL] [Abstract][Full Text] [Related]
34. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
Wang CH; Liang WC; Minami N; Nishino I; Jong YJ
Pediatr Neonatol; 2015 Feb; 56(1):62-5. PubMed ID: 23597518
[TBL] [Abstract][Full Text] [Related]
35. Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Garnham CP; Hanna RA; Chou JS; Low KE; Gourlay K; Campbell RL; Beckmann JS; Davies PL
Biochemistry; 2009 Apr; 48(15):3457-67. PubMed ID: 19226146
[TBL] [Abstract][Full Text] [Related]
36. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
[TBL] [Abstract][Full Text] [Related]
37. Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
Tagawa K; Taya C; Hayashi Y; Nakagawa M; Ono Y; Fukuda R; Karasuyama H; Toyama-Sorimachi N; Katsui Y; Hata S; Ishiura S; Nonaka I; Seyama Y; Arahata K; Yonekawa H; Sorimachi H; Suzuki K
Hum Mol Genet; 2000 May; 9(9):1393-402. PubMed ID: 10814721
[TBL] [Abstract][Full Text] [Related]
38. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Passos-Bueno MR; Richard I; Vainzof M; Fougerousse F; Weissenbach J; Broux O; Cohen D; Akiyama J; Marie SK; Carvalho AA
J Med Genet; 1993 May; 30(5):385-7. PubMed ID: 8320700
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
Canki-Klain N; Milic A; Kovac B; Trlaja A; Grgicevic D; Zurak N; Fardeau M; Leturcq F; Kaplan JC; Urtizberea JA; Politano L; Piluso G; Feingold J
Am J Med Genet A; 2004 Mar; 125A(2):152-6. PubMed ID: 14981715
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
