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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
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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 …
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.
Several distinct subtypes of familial DCM have been identified. Autosomal dominant DCM is the most frequent form (56% of our cases), and several candidate disease loci have been identified by linkage analysis. ...This latter gene has recently been found to be respon …
Several distinct subtypes of familial DCM have been identified. Autosomal dominant DCM is the most frequent form (56% of our c …
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC. Le Thanh P, et al. Neuromuscul Disord. 2017 Apr;27(4):338-351. doi: 10.1016/j.nmd.2016.12.003. Epub 2016 Dec 21. Neuromuscul Disord. 2017. PMID: 28214269 Free PMC article.
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. ...Therefor …
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular …
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
Cotta A, Paim JF, Carvalho E, Valicek J, da Cunha Junior AL, Navarro MM, Vargas AP, Lima MI, de Almeida CF, Takata RI, Vainzof M. Cotta A, et al. J Mol Neurosci. 2019 Dec;69(4):623-627. doi: 10.1007/s12031-019-01390-0. Epub 2019 Aug 13. J Mol Neurosci. 2019. PMID: 31410651
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these forms, muscle weakness, contractures, and cardiac impairment are co …
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy …
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 …
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.
Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F. Mercuri E, et al. Ann Neurol. 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846. Ann Neurol. 2010. PMID: 20225280
The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss …
The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, …
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, including 3 …
BACKGROUND AND PURPOSE: Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with ca …
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW. Ki CS, et al. J Hum Genet. 2002;47(5):225-8. doi: 10.1007/s100380200029. J Hum Genet. 2002. PMID: 12032588
Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle …
Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic …
Nuclear architecture remodelling in envelopathies.
Fidziańska A, Glinka Z. Fidziańska A, et al. Folia Neuropathol. 2007;45(2):47-55. Folia Neuropathol. 2007. PMID: 17594594 Free article.
We performed ultrastructural studies on nuclear abnormalities in muscle from 8 patients with X-linked and autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD) and one case with progeroid syndrome. ...
We performed ultrastructural studies on nuclear abnormalities in muscle from 8 patients with X-linked and autosomal dominant f …