178 related articles for article (PubMed ID: 7937874)
1. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
McNally EM; Yoshida M; Mizuno Y; Ozawa E; Kunkel LM
Proc Natl Acad Sci U S A; 1994 Oct; 91(21):9690-4. PubMed ID: 7937874
[TBL] [Abstract][Full Text] [Related]
2. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
Roberds SL; Leturcq F; Allamand V; Piccolo F; Jeanpierre M; Anderson RD; Lim LE; Lee JC; Tomé FM; Romero NB
Cell; 1994 Aug; 78(4):625-33. PubMed ID: 8069911
[TBL] [Abstract][Full Text] [Related]
3. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Bueno MR; Moreira ES; Vainzof M; Chamberlain J; Marie SK; Pereira L; Akiyama J; Roberds SL; Campbell KP; Zatz M
Hum Mol Genet; 1995 Jul; 4(7):1163-7. PubMed ID: 8528203
[TBL] [Abstract][Full Text] [Related]
4. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
Kawai H; Akaike M; Endo T; Adachi K; Inui T; Mitsui T; Kashiwagi S; Fujiwara T; Okuno S; Shin S
J Clin Invest; 1995 Sep; 96(3):1202-7. PubMed ID: 7657792
[TBL] [Abstract][Full Text] [Related]
5. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Piccolo F; Roberds SL; Jeanpierre M; Leturcq F; Azibi K; Beldjord C; Carrié A; Récan D; Chaouch M; Reghis A
Nat Genet; 1995 Jun; 10(2):243-5. PubMed ID: 7663524
[TBL] [Abstract][Full Text] [Related]
6. [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].
Endo T; Akaike M; Kawai H; Matsumura K; Saito S
Rinsho Shinkeigaku; 1996 Mar; 36(3):415-22. PubMed ID: 8741343
[TBL] [Abstract][Full Text] [Related]
7. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
Romero NB; Tomé FM; Leturcq F; el Kerch FE; Azibi K; Bachner L; Anderson RD; Roberds SL; Campbell KP; Fardeau M
C R Acad Sci III; 1994 Jan; 317(1):70-6. PubMed ID: 7987694
[TBL] [Abstract][Full Text] [Related]
8. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Ljunggren A; Duggan D; McNally E; Boylan KB; Gama CH; Kunkel LM; Hoffman EP
Ann Neurol; 1995 Sep; 38(3):367-72. PubMed ID: 7668821
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Noguchi S; McNally EM; Ben Othmane K; Hagiwara Y; Mizuno Y; Yoshida M; Yamamoto H; Bönnemann CG; Gussoni E; Denton PH; Kyriakides T; Middleton L; Hentati F; Ben Hamida M; Nonaka I; Vance JM; Kunkel LM; Ozawa E
Science; 1995 Nov; 270(5237):819-22. PubMed ID: 7481775
[TBL] [Abstract][Full Text] [Related]
10. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Lim LE; Duclos F; Broux O; Bourg N; Sunada Y; Allamand V; Meyer J; Richard I; Moomaw C; Slaughter C
Nat Genet; 1995 Nov; 11(3):257-65. PubMed ID: 7581448
[TBL] [Abstract][Full Text] [Related]
11. Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.
Yamada H; Tomé FM; Higuchi I; Kawai H; Azibi K; Chaouch M; Roberds SL; Tanaka T; Fujita S; Mitsui T
Lab Invest; 1995 Jun; 72(6):715-22. PubMed ID: 7783429
[TBL] [Abstract][Full Text] [Related]
12. [Severe childhood autosomal recessive muscular dystrophy].
Matsumura K; Shimizu T
Rinsho Shinkeigaku; 1995 Dec; 35(12):1422-4. PubMed ID: 8752417
[TBL] [Abstract][Full Text] [Related]
13. Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro.
Liu L; Vachon PH; Kuang W; Xu H; Wewer UM; Kylsten P; Engvall E
Biochem Biophys Res Commun; 1997 Jun; 235(1):227-35. PubMed ID: 9196068
[TBL] [Abstract][Full Text] [Related]
14. [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
Matsumura K
Nihon Rinsho; 1997 Dec; 55(12):3154-8. PubMed ID: 9436427
[TBL] [Abstract][Full Text] [Related]
15. [Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].
Akaike M; Kawai H
Rinsho Byori; 1997 Feb; 45(2):136-40. PubMed ID: 9120997
[TBL] [Abstract][Full Text] [Related]
16. [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].
Endo T; Kawai H
Nihon Rinsho; 1997 Dec; 55(12):3159-64. PubMed ID: 9436428
[TBL] [Abstract][Full Text] [Related]
17. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
Bönnemann CG; Modi R; Noguchi S; Mizuno Y; Yoshida M; Gussoni E; McNally EM; Duggan DJ; Angelini C; Hoffman EP
Nat Genet; 1995 Nov; 11(3):266-73. PubMed ID: 7581449
[TBL] [Abstract][Full Text] [Related]
18. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin).
Roberds SL; Anderson RD; Ibraghimov-Beskrovnaya O; Campbell KP
J Biol Chem; 1993 Nov; 268(32):23739-42. PubMed ID: 8226900
[TBL] [Abstract][Full Text] [Related]
19. Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
Jung D; Leturcq F; Sunada Y; Duclos F; Tomé FM; Moomaw C; Merlini L; Azibi K; Chaouch M; Slaughter C; Fardeau M; Kaplan JC; Campbell KP
FEBS Lett; 1996 Feb; 381(1-2):15-20. PubMed ID: 8641426
[TBL] [Abstract][Full Text] [Related]
20. Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects.
Handa V; Mital A; Gupta M; Goyle S
Neurol India; 2001 Mar; 49(1):19-24. PubMed ID: 11303236
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
