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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 1, X-linked"
Page 1
Emery-Dreifuss syndrome.
Emery AE. Emery AE. J Med Genet. 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637. J Med Genet. 1989. PMID: 2685312 Free PMC article. Review.
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stag …
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achille …
Hereditary muscular dystrophies and the heart.
Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG. Hermans MC, et al. Neuromuscul Disord. 2010 Aug;20(8):479-92. doi: 10.1016/j.nmd.2010.04.008. Neuromuscul Disord. 2010. PMID: 20627570 Review.
As prognosis of muscular dystrophy patients may be directly related to cardiac status, surveillance and timely management of cardiac complications are important. ...In this review, we present a comprehensive overview of hereditary muscular dystrophies …
As prognosis of muscular dystrophy patients may be directly related to cardiac status, surveillance and timely manageme …
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I. Niebroj-Dobosz I, et al. Acta Biochim Pol. 2009;56(4):717-22. Epub 2009 Dec 8. Acta Biochim Pol. 2009. PMID: 19997654
In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metalloproteinases (MMPs) are supposed to be involved and may have diagnostic/prognostic value. ...In the autosomal-dominant EDMD MMP-2 and MT …
In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metallopr …
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J. Borch JDS, et al. Hum Mutat. 2022 Sep;43(9):1234-1238. doi: 10.1002/humu.24415. Epub 2022 Jul 16. Hum Mutat. 2022. PMID: 35607917 Free PMC article.
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness, and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X …
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of …
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I. Niebroj-Dobosz I, et al. Scand J Clin Lab Invest. 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272. Scand J Clin Lab Invest. 2011. PMID: 22077867
BACKGROUND: As osteopontin (OPN) may be assumed to have diagnostic/prognostic value in heart diseases, it is worth assessing whether it is also involved in the pathogenesis and can be applied in the diagnosis of the dilated cardiomyopathy (DCM) in Emery-Dreifuss …
BACKGROUND: As osteopontin (OPN) may be assumed to have diagnostic/prognostic value in heart diseases, it is worth assessing whether …
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
San Román I, Navarro M, Martínez F, Albert L, Polo L, Guardiola J, García-Molina E, Muñoz-Esparza C, López-Ayala JM, Sabater-Molina M, Gimeno JR. San Román I, et al. Clin Genet. 2016 Aug;90(2):171-6. doi: 10.1111/cge.12760. Epub 2016 Mar 23. Clin Genet. 2016. PMID: 26857240
Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. ...Thrombopenia and raised creatine phosphokinase should raise suspicion of …
Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral musc …
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz IM, Sokołowska B, Madej-Pilarczyk A, Marchel M, Hausmanowa-Petrusewicz I. Niebroj-Dobosz IM, et al. Kardiol Pol. 2015;73(5):360-5. doi: 10.5603/KP.a2014.0243. Epub 2015 Jan 7. Kardiol Pol. 2015. PMID: 25563468 Free article.
Hitherto, they have not been examined in dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy (EDMD). AIM: To define TIMPs in serum because they might help in defining cardiac dysfunction at the early cardiological stages of …
Hitherto, they have not been examined in dilated cardiomyopathy in the course of Emery-Dreifuss muscular dyst …
Successful surgical repair for Emery-Dreifuss muscular dystrophy valvular disease with long-term follow-up.
Takai H, Yamada T, Tada S, Matsumaru I. Takai H, et al. Interact Cardiovasc Thorac Surg. 2010 May;10(5):811-2. doi: 10.1510/icvts.2009.221671. Epub 2010 Feb 5. Interact Cardiovasc Thorac Surg. 2010. PMID: 20139205
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked muscular dystrophy in which cardiac involvement can be serious. The disease progresses rapidly and the prognosis is strongly associated with cardiac involvement. …
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked muscular dystrophy in which …
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.
Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group. Sinagra G, et al. Ital Heart J. 2001 Apr;2(4):280-6. Ital Heart J. 2001. PMID: 11374497 Review.
This latter gene has recently been found to be responsible for both the autosomal dominant form of DCM with subclinical skeletal muscle disease (7.7% of cases) and the familial form with conduction defects (2.6% of cases) or the autosomal dominant variant of Emery-Dreif …
This latter gene has recently been found to be responsible for both the autosomal dominant form of DCM with subclinical skeletal muscle dise …
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D. Chen T, et al. Neuromuscul Disord. 2020 Feb;30(2):165-172. doi: 10.1016/j.nmd.2019.11.011. Epub 2019 Nov 28. Neuromuscul Disord. 2020. PMID: 32001145
FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with postural muscle atrophy (XMPMA), X-linked Emery-Dreifuss muscular …
FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome …
28 results