126 related articles for article (PubMed ID: 8580729)
1. Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.
Toscano A; Vitiello L; Comi GP; Galvagni F; Miorin M; Prelle A; Fortunato F; Bardoni A; Mora M; Fiumara A
Neuromuscul Disord; 1995 Nov; 5(6):475-81. PubMed ID: 8580729
[TBL] [Abstract][Full Text] [Related]
2. Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.
Hattori N; Kaido M; Nishigaki T; Inui K; Fujimura H; Nishimura T; Naka T; Hazama T
Neuromuscul Disord; 1999 Jun; 9(4):220-6. PubMed ID: 10399748
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy.
Gold R; Kress W; Bettecken T; Reichmann H; Müller CR
J Neurol; 1994 Mar; 241(5):331-4. PubMed ID: 8006687
[TBL] [Abstract][Full Text] [Related]
5. Enormous dystrophin in a patient with Becker muscular dystrophy.
Angelini C; Beggs AH; Hoffman EP; Fanin M; Kunkel LM
Neurology; 1990 May; 40(5):808-12. PubMed ID: 2158637
[TBL] [Abstract][Full Text] [Related]
6. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.
Comi GP; Prelle A; Bresolin N; Moggio M; Bardoni A; Gallanti A; Vita G; Toscano A; Ferro MT; Bordoni A
Brain; 1994 Feb; 117 ( Pt 1)():1-14. PubMed ID: 8149204
[TBL] [Abstract][Full Text] [Related]
7. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
Vainzof M; Passos-Bueno MR; Takata RI; Pavanello Rde C; Zatz M
J Neurol Sci; 1993 Oct; 119(1):38-42. PubMed ID: 8246009
[TBL] [Abstract][Full Text] [Related]
8. Prevalent cardiac involvement in dystrophin Becker type mutation.
Siciliano G; Fanin M; Angelini C; Pollina LE; Miorin M; Saad FA; Freda MP; Muratorio A
Neuromuscul Disord; 1994 Jul; 4(4):381-6. PubMed ID: 7981595
[TBL] [Abstract][Full Text] [Related]
9. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
Bushby KM; Gardner-Medwin D; Nicholson LV; Johnson MA; Haggerty ID; Cleghorn NJ; Harris JB; Bhattacharya SS
J Neurol; 1993 Feb; 240(2):105-12. PubMed ID: 8437017
[TBL] [Abstract][Full Text] [Related]
10. [Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z; Vojtísková M; Fajkusová L; Bednarík J; Kadanka Z; Hájek J; Hermanová M; Vohánka S; Vytopil M
Cesk Patol; 2001 Nov; 37(4):137-45. PubMed ID: 11813630
[TBL] [Abstract][Full Text] [Related]
11. Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype.
Morandi L; Mora M; Confalonieri V; Barresi R; Di Blasi C; Brugnoni R; Bernasconi P; Mantegazza R; Dworzak F; Antozzi C
J Neurol Sci; 1995 Oct; 132(2):146-55. PubMed ID: 8543940
[TBL] [Abstract][Full Text] [Related]
12. Dystrophin, utrophin and beta-dystroglycan expression in skeletal muscle from patients with Becker muscular dystrophy.
Kawajiri M; Mitsui T; Kawai H; Kobunai T; Tsuchihashi T; Saito S
J Neuropathol Exp Neurol; 1996 Aug; 55(8):896-903. PubMed ID: 8759779
[TBL] [Abstract][Full Text] [Related]
13. Quantitative and qualitative alterations of dystrophin are expressed in muscle cell cultures of Xp21 muscular dystrophy patients (Duchenne and Becker type).
Mongini T; Doriguzzi C; Palmucci L; Chiadò-Piat L
Eur J Clin Invest; 1996 Apr; 26(4):322-4. PubMed ID: 8732491
[TBL] [Abstract][Full Text] [Related]
14. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A; Bruels CC; Donkervoort S; Foley AR; Codina A; Milisenda JC; Estrella EA; Li C; Pijuan J; Draper I; Hu Y; Stafki SA; Pais LS; Ganesh VS; O'Donnell-Luria A; Syeda SB; Carrera-García L; Expósito-Escudero J; Yubero D; Martorell L; Pinal-Fernandez I; Lidov HGW; Mammen AL; Grau-Junyent JM; Ortez C; Palau F; Ghosh PS; Darras BT; Jou C; Kunkel LM; Hoenicka J; Bönnemann CG; Kang PB; Natera-de Benito D
Acta Neuropathol; 2023 Apr; 145(4):479-496. PubMed ID: 36799992
[TBL] [Abstract][Full Text] [Related]
15. Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.
Villanova M; Malandrini A; Biancotti R; Löfgren A; Mongini T; Six J; Salvestroni R; Parrotta E; Van Broeckhoven C; Paolozzi C; Guazzi G
Neuromuscul Disord; 1996 May; 6(3):167-72. PubMed ID: 8784804
[TBL] [Abstract][Full Text] [Related]
16. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?
Fanin M; Freda MP; Vitiello L; Danieli GA; Pegoraro E; Angelini C
Muscle Nerve; 1996 Sep; 19(9):1154-60. PubMed ID: 8761273
[TBL] [Abstract][Full Text] [Related]
17. Costameric distribution of beta-dystroglycan (43 kDa dystrophin-associated glycoprotein) in normal and dystrophin-deficient human skeletal muscle.
Herrmann R; Anderson LV; Voit T
Biochem Soc Trans; 1996 May; 24(2):501-6. PubMed ID: 8736792
[No Abstract] [Full Text] [Related]
18. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
Patria SY; Alimsardjono H; Nishio H; Takeshima Y; Nakamura H; Matsuo M
Proc Assoc Am Physicians; 1996 Jul; 108(4):308-14. PubMed ID: 8863344
[TBL] [Abstract][Full Text] [Related]
19. Asymptomatic Becker muscular dystrophy: expression of dystrophin and dystrophin-related protein.
Tachi N; Wakai S; Watanabe Y; Ohya K; Chiba S
Pediatr Neurol; 1993; 9(3):207-9. PubMed ID: 8352853
[TBL] [Abstract][Full Text] [Related]
20. Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy.
Rivier F; Tuffery S; Jellali AJ; Echenne B; Mornet D; Pons F
Muscle Nerve; 1998 Oct; 21(10):1317-20. PubMed ID: 9736061
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
