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Page 1
Emerin.
Tews DS. Tews DS. Int J Biochem Cell Biol. 1999 Sep;31(9):891-4. doi: 10.1016/s1357-2725(99)00040-0. Int J Biochem Cell Biol. 1999. PMID: 10533281 Review.
Emerin encoded by the STA gene is the first nuclear protein linked with a muscular dystrophy. Emerin is a 34 kDa, predominantly hydrophilic protein with a single hydrophobic region supposed to serve as a transmembrane domain. ...During mitosis, emerin is cell-cycle- …
Emerin encoded by the STA gene is the first nuclear protein linked with a muscular dystrophy. Emerin is a 34 kDa, predominantl …
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
Emery-Dreifuss muscular dystrophy.
Puckelwartz M, McNally EM. Puckelwartz M, et al. Handb Clin Neurol. 2011;101:155-66. doi: 10.1016/B978-0-08-045031-5.00012-8. Handb Clin Neurol. 2011. PMID: 21496632 Review.
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also distinctive for its association with defects of the cardiac conduction system that c
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder defined by early contractures
Emery-Dreifuss muscular dystrophy.
Muchir A, Worman HJ. Muchir A, et al. Curr Neurol Neurosci Rep. 2007 Jan;7(1):78-83. doi: 10.1007/s11910-007-0025-3. Curr Neurol Neurosci Rep. 2007. PMID: 17217858 Review.
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. .
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A, Kochański A. Madej-Pilarczyk A, et al. Folia Neuropathol. 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. Folia Neuropathol. 2016. PMID: 27179216 Free article. Review.
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. ...The majority o
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-perone
The nuclear muscular dystrophies.
Wehnert MS, Bonne G. Wehnert MS, et al. Semin Pediatr Neurol. 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. Semin Pediatr Neurol. 2002. PMID: 12138994 Review.
Nuclear muscular dystrophies are referred to as inherited muscular dystrophies caused by mutations in genes--(STA) or lamina (LMNA)--encoding components of the nuclear envelope. Phenotypically, they present as Emery-Dreifuss muscular dystroph
Nuclear muscular dystrophies are referred to as inherited muscular dystrophies caused by mutations in genes--(STA) or lamina ( …
Dystrophies and heart disease.
Cox GF, Kunkel LM. Cox GF, et al. Curr Opin Cardiol. 1997 May;12(3):329-43. Curr Opin Cardiol. 1997. PMID: 9243091 Review.
Myocardial disease manifesting predominantly as cardiomyopathy and congestive heart failure is characteristic of Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy, whereas conduction system abnormalities that cause heart block, arrh …
Myocardial disease manifesting predominantly as cardiomyopathy and congestive heart failure is characteristic of Duchenne and Becker musc
[Emery-Dreifuss muscular dystrophy].
Kubo S, Tsukahara T, Arahata K. Kubo S, et al. Nihon Rinsho. 1997 Dec;55(12):3186-9. Nihon Rinsho. 1997. PMID: 9436433 Review. Japanese.
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of
Reducing body myopathy and other FHL1-related muscular disorders.
Schessl J, Feldkirchner S, Kubny C, Schoser B. Schessl J, et al. Semin Pediatr Neurol. 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007. Semin Pediatr Neurol. 2011. PMID: 22172421 Review.
Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, and scapuloperoneal myopath …
Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with
Emery-Dreifuss muscular dystrophy.
Zacharias AS, Wagener ME, Warren ST, Hopkins LC. Zacharias AS, et al. Semin Neurol. 1999;19(1):67-79. doi: 10.1055/s-2008-1040827. Semin Neurol. 1999. PMID: 10711990 Review.
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. ...Emerin is localized to the nuclear membrane of skeletal, cardiac, and smooth muscle. The term Emery-Dreifuss syn
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dyst
44 results