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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 1, X-linked"
Page 1
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Bonne G, et al. Nat Genet. 1999 Mar;21(3):285-8. doi: 10.1038/6799. Nat Genet. 1999. PMID: 10080180 Clinical Trial.
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. ...EDMD-AD is clinica …
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, …
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A. Boriani G, et al. Stroke. 2003 Apr;34(4):901-8. doi: 10.1161/01.STR.0000064322.47667.49. Epub 2003 Mar 20. Stroke. 2003. PMID: 12649505
BACKGROUND AND PURPOSE: Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. ...METHODS AND RESULTS: Eighteen patients (age 42.8+/-19.6 years) with genetically confirmed X-linked (n=10 …
BACKGROUND AND PURPOSE: Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with ca …
Novel mutations in the emerin gene in Israeli families.
Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A. Nevo Y, et al. Hum Mutat. 2001 Jun;17(6):522. doi: 10.1002/humu.1139. Hum Mutat. 2001. PMID: 11385714
Emery-Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X-linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures, and cardiomyopathy, manifesting as heart block. Mutation analysis at the EMD ge …
Emery-Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X-linked recessive disorder, characteriz …
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.
Ellis JA, Craxton M, Yates JR, Kendrick-Jones J. Ellis JA, et al. J Cell Sci. 1998 Mar;111 ( Pt 6):781-92. doi: 10.1242/jcs.111.6.781. J Cell Sci. 1998. PMID: 9472006
The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, which is localized to the nuclear membrane. ...Expression and subcellular distribution of emerin were studied in lymphoblastoid cell lines esta …
The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, whi …
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy.
Talkop UA, Talvik I, Sõnajalg M, Sibul H, Kolk A, Piirsoo A, Warzok R, Wulff K, Wehnert MS, Talvik T. Talkop UA, et al. Neuromuscul Disord. 2002 Nov;12(9):878-81. doi: 10.1016/s0960-8966(02)00134-7. Neuromuscul Disord. 2002. PMID: 12398842 Clinical Trial.
Two brothers are reported suffering from X-linked Emery-Dreifuss muscular dystrophy caused by a 59bp deletion eliminating nucleotides 329-388 of the STA gene. ...A cardiological follow up showed worsening of the cardiac condition in the b …
Two brothers are reported suffering from X-linked Emery-Dreifuss muscular dystrophy caused by a 59 …
Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.
Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P. Smith GC, et al. J Cardiovasc Magn Reson. 2006;8(5):723-30. doi: 10.1080/10976640600723862. J Cardiovasc Magn Reson. 2006. PMID: 16891232
BACKGROUND: Emery-Dreifuss muscular dystrophy is a genetically heterogeneous form of muscular dystrophy. ...AIM: In this study, we hypothesized that early myocardial dysfunction can be detected by tissue Doppler echocardiography and CMR i …
BACKGROUND: Emery-Dreifuss muscular dystrophy is a genetically heterogeneous form of muscular dystroph …