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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 …
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 …
Gene localizations are known for Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystr …
Emery-Dreifuss muscular dystrophy and other related disorders.
Emery AE. Emery AE. Br Med Bull. 1989 Jul;45(3):772-87. doi: 10.1093/oxfordjournals.bmb.a072357. Br Med Bull. 1989. PMID: 2688828 Review.
Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the …
Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbow …
Mouse models of nesprin-related diseases.
Zhou C, Rao L, Warren DT, Shanahan CM, Zhang Q. Zhou C, et al. Biochem Soc Trans. 2018 Jun 19;46(3):669-681. doi: 10.1042/BST20180085. Epub 2018 May 21. Biochem Soc Trans. 2018. PMID: 29784648 Review.
Over 80 disease-related variants have been identified in SYNE-1/2 (nesprin-1/2) genes, which result in muscular or central nervous system disorders including autosomal dominant Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and …
Over 80 disease-related variants have been identified in SYNE-1/2 (nesprin-1/2) genes, which result in muscular or central nervous sy …
Nondystrophinopathic muscular dystrophies including myotonic dystrophy.
Nonaka I, Kobayashi O, Osari S. Nonaka I, et al. Semin Pediatr Neurol. 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. Semin Pediatr Neurol. 1996. PMID: 8795845 Review.
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosolog …
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated hetero …
Nuclear matrix proteins and hereditary diseases.
Sjakste N, Sjakste T. Sjakste N, et al. Genetika. 2005 Mar;41(3):293-8. Genetika. 2005. PMID: 15865282 Review.
Laminopathies are hereditary diseases coupled to structural defects of the nuclear lamina. These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disea …
Laminopathies are hereditary diseases coupled to structural defects of the nuclear lamina. These diseases include Emery-Dreifuss …
[Current diagnosis in muscular dystrophies. New developments, methods of examination and case examples].
Weilbach FX, Kress W, Strassburg HM, Müller CR, Gold R. Weilbach FX, et al. Nervenarzt. 1999 Feb;70(2):89-100. doi: 10.1007/s001150050408. Nervenarzt. 1999. PMID: 10098143 Review. German.
Recent progress in the field of molecular genetics revealed a broader spectrum of dystrophin-related disorders than previously assumed. In addition, the pathogenetic basis of other types of muscular dystrophies could be identified: some autosomal-recessive li …
Recent progress in the field of molecular genetics revealed a broader spectrum of dystrophin-related disorders than previously assumed. In a …