| 1 | BMD, FST
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| Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy.
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| Al-Zaidy SA, Sahenk Z, Rodino-Klapac LR, Kaspar B, Mendell JR.
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| J Neuromuscul Dis 2(3):185-192.
2015
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| 2 | BMD, DMD
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| A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy.
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| Guo X, Dai Y, Cui L, Fang Q.
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| Can J Cardiol 30(8):956.e1-3. doi: 10.1016/j.cjca.2014.05.002. Epub 2014 May 6.
2014
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| 3 | BMD, DMD
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| Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
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| Acsadi G, Moore SA, Chéron A, Delalande O, Bennett L, Kupsky W, El-Baba M, Le Rumeur E, Hubert JF.
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| J Biol Chem 287(22):18153-62. doi: 10.1074/jbc.M111.284521. Epub 2012 Mar 27.
2012
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| 4 | BMD, DMD
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| Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
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| Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J.
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| Hum Mol Genet 18(20):3779-94. Epub 2009 Jul 14.PMID: 19602481 2009
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| 5 | BMD, DMD
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| Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
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| Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E.
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| Clin Genet 75(5):465-72.
2009
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| 6 | AQP4, DMD, BMD
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| Altered aquaporin-4 expression in human muscular dystrophies: a common feature?
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| Frigeri A, Nicchia GP, Repetto S, Bado M, Minetti C, Svelto M.
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| FASEB J 16(9):1120-2. Epub 2002 May 08. 2002
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| 7 | BMD, CNM1, MYF6
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| Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
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| Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, HŸbner C.
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| Neuromuscul Disord 10(8):572-7. 2000
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| 8 | BMD, DMD
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| Mutation analysis of the dystrophin gene in Southern French DMD or BMD families : from Southern blot to protein truncation test.
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| Tuffery S, et al.
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| Hum Genet 102 : 334-342. 1998
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| 9 | BMD, DMD
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| The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
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| van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E.
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| J Med Genet 34(10):805-12. 1997
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| 10 | BMD, DMD
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| Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
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| Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.
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| J Clin Invest 100(9):2204-10. 1997
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| 11 | BMD, DMD
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| Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
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| Prior TW, et al.
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| Hum Mutat 7 : 72-75. 1996
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| 12 | BMD, DMD
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| Splicing mutations in DMD/BMD detected by RT-PCR/PTT : detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
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| Roest PAM, et al.
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| J Med Genet 33 : 935-939. 1996
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| 13 | BMD, DMD
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| Spectrum of small mutations in the dystrophin coding region.
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| Prior TW, et al.
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| Am J Hum Genet 57 : 22-33. 1995
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| 14 | BMD, DMD
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| Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in De novo dystrophin gene deletions.
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| Bunyan DJ, et al.
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| Hum Genet 95 : 43-45. 1995
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| 15 | BMD, DMD
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| Searching for the 1 in 2,400,000 : a review of dystrophin gene point mutations.
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| Roberts RG, et al.
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| Hum Mutat 4 : 1-11. 1994
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| 16 | BMD, DMD
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| Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients : characterization of sub-clinical phenotypes.
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| Angelini C, et al.
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| Neuromuscul Disord 4 : 349-358. 1994
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| 17 | BMD, DMD
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| Prevalent cardiac involvement in dystrophin becker type mutation.
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| Siciliano G, et al.
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| Neuromuscul Disord 4 : 381-386. 1994
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| 18 | BMD
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| Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.
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| Bushby KMD, et al.
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| Hum Genet 88 : 195-199. 1991
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| 19 | BMD
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| Exploring the molecular basis for variability among patients with Becker muscular dystrophy : dystrophin gene and protein studies.
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| Beggs AH, et al.
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| Am J Hum Genet 49 : 54-67. 1991
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| 20 | BMD, DMD
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| Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.
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| Roberts RG, Bentley DR, Barby TF, Manners E, Bobrow M.
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| Lancet 336 : 1523-1526. 1990
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| 21 | BMD
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| Very mild muscular dystrophy associated with the deletion of 460f dystrophin.
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| England SB, et al.
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| Nature 343 : 180-182. 1990
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| 22 | DMD, BMD
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| Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.
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| Gilgenkrantz H, Chelly J, Lambert M, Recan D, Barbot JC, van Ommen GJ, Kaplan JC.
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| Genomics 5 : 574-580. 1989
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| 23 | BMD, DMD, DXS164
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| Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
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