320 related articles for article (PubMed ID: 7987694)
1. 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]
2. 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]
3. 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]
4. [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]
5. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.
Fardeau M; Matsumura K; Tomé FM; Collin H; Leturcq F; Kaplan JC; Campbell KP
C R Acad Sci III; 1993 Aug; 316(8):799-804. PubMed ID: 8044705
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
Matsumura K; Tomé FM; Collin H; Azibi K; Chaouch M; Kaplan JC; Fardeau M; Campbell KP
Nature; 1992 Sep; 359(6393):320-2. PubMed ID: 1406935
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.
Higuchi I; Yamada H; Fukunaga H; Iwaki H; Okubo R; Nakagawa M; Osame M; Roberds SL; Shimizu T; Campbell KP
J Clin Invest; 1994 Aug; 94(2):601-6. PubMed ID: 8040315
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [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]
14. 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]
15. [Complete deficiency of adhalin (50 kDa DAG) in skeletal muscle of malignant limb-girdle muscular dystrophy].
Kawai H; Inui T; Mitsui T; Campbell KP; Shimizu T; Matsumura K
Rinsho Shinkeigaku; 1995 Feb; 35(2):184-9. PubMed ID: 7781237
[TBL] [Abstract][Full Text] [Related]
16. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
García-García D; Teijeira-Bautista S; Fernández-Rodríguez JM; Flores-Calvete J; Sánchez-Espíldora P; Fernández-Couto D; Cimas-Hernando I; Teijeiro-Ferreira A; Fernández-Hojas R; Brasa-Fernández Fierros J; Martínez de Alegría A; Escribano-Arias JL; Núñez-Delgado M; Navarro-Fernández Balbuena C
Rev Neurol; 1998 Jun; 26(154):905-11. PubMed ID: 9658457
[TBL] [Abstract][Full Text] [Related]
17. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
Azibi K; Bachner L; Beckmann JS; Matsumura K; Hamouda E; Chaouch M; Chaouch A; Ait-Ouarab R; Vignal A; Weissenbach J
Hum Mol Genet; 1993 Sep; 2(9):1423-8. PubMed ID: 8242065
[TBL] [Abstract][Full Text] [Related]
18. [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].
Eirís-Puñal J; Pintos-Martínez E; Lasa A; Gallano P; Castro-Gago M
Rev Neurol; 2002 Mar 1-15; 34(5):486-9. PubMed ID: 12040521
[TBL] [Abstract][Full Text] [Related]
19. Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.
Zatz M; Matsumura K; Vainzof M; Passos-Bueno MR; Pavanello RC; Marie SK; Campbell KP
J Neurol Sci; 1994 May; 123(1-2):122-8. PubMed ID: 8064304
[TBL] [Abstract][Full Text] [Related]
20. Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.
Fadic R; Sunada Y; Waclawik AJ; Buck S; Lewandoski PJ; Campbell KP; Lotz BP
N Engl J Med; 1996 Feb; 334(6):362-6. PubMed ID: 8538707
[No Abstract] [Full Text] [Related]
[Next] [New Search]