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1987 1
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Page 1
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. ...
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. ...
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
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
Invertebrate models of lamin diseases.
Rzepecki R, Gruenbaum Y. Rzepecki R, et al. Nucleus. 2018 Jan 1;9(1):227-234. doi: 10.1080/19491034.2018.1454166. Nucleus. 2018. PMID: 29557730 Free PMC article. Review.
Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant …
Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, m …
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S. Bonne G, et al. Handb Clin Neurol. 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. Handb Clin Neurol. 2013. PMID: 23622360 Free article. Review.
The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscula
The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutat …
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).
Emery AE. Emery AE. Clin Genet. 1987 Nov;32(5):360-7. doi: 10.1111/j.1399-0004.1987.tb03302.x. Clin Genet. 1987. PMID: 3319295 Review.
The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type) has been reinvestigated 25 years later. The findings confirm that a cardiomyopathy, presenting most often as atrioventricular …
The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Drei
Limb-girdle muscular dystrophy.
Mathews KD, Moore SA. Mathews KD, et al. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. doi: 10.1007/s11910-003-0042-9. Curr Neurol Neurosci Rep. 2003. PMID: 12507416 Review.
Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the dystrophinopathies (Duchenne and Becker muscular dystrophy). Some are allelic with other forms of muscular
Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F …
Emery-Dreifuss muscular dystrophy - a 40 year retrospective.
Emery AE. Emery AE. Neuromuscul Disord. 2000 Jun;10(4-5):228-32. doi: 10.1016/s0960-8966(00)00105-x. Neuromuscul Disord. 2000. PMID: 10838246 Review.
Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures and humero-peroneal weakness, and cardiac conduction de
Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy n
The muscular dystrophies.
Bushby KM. Bushby KM. Baillieres Clin Neurol. 1994 Aug;3(2):407-30. Baillieres Clin Neurol. 1994. PMID: 7952855 Review.
Gene localizations are known for Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive muscular dyst
Gene localizations are known for Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystr
43 results