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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 1, X-linked"
Page 1
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.
Funakoshi M, Tsuchiya Y, Arahata K. Funakoshi M, et al. Neuromuscul Disord. 1999 Mar;9(2):108-14. doi: 10.1016/s0960-8966(98)00097-2. Neuromuscul Disord. 1999. PMID: 10220866 Review.
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-threatening progressive cardiomyopathy with conduction defect, early onset joint contractures and slow progressive muscle weakness in scapulo- …
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-th …
The nuclear envelope in muscular dystrophy and cardiovascular diseases.
Burke B, Mounkes LC, Stewart CL. Burke B, et al. Traffic. 2001 Oct;2(10):675-83. doi: 10.1034/j.1600-0854.2001.21001.x. Traffic. 2001. PMID: 11576443 Free article. Review.
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction system defects, limb girdle muscular …
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of …
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.
Phenotypically, they present as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscle dystrophy 1B (LGMD1B), or dilated cardiomyopathy with conduction defects (DCM-CD). ...Although structural abnormalities of nuclei in animal and cell mod …
Phenotypically, they present as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscle dystrophy 1B …
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 …
Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review.
Tang Z, Hu Z, Qin X, Zhu Z, Liu Z. Tang Z, et al. Orthop Surg. 2022 Dec;14(12):3448-3454. doi: 10.1111/os.13526. Epub 2022 Oct 17. Orthop Surg. 2022. PMID: 36250567 Free PMC article. Review.
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X-linked myopathy, and it could result in rigid spinal deformity. ...Six months later, with an anterior C7-T1 closing wedge bone-disc-bone osteotom …
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X-linked …
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 …
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. Ziat E, et al. J Neuromuscul Dis. 2016 Nov 29;3(4):497-510. doi: 10.3233/JND-160169. J Neuromuscul Dis. 2016. PMID: 27911330
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encoding for the nuclear envelope proteins emerin and lamin A/C, indicating that EDMD is a nuclear envelope disease. We recently reported mutations …
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encodin …
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 …
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.
Herrada I, Samson C, Velours C, Renault L, Östlund C, Chervy P, Puchkov D, Worman HJ, Buendia B, Zinn-Justin S. Herrada I, et al. ACS Chem Biol. 2015 Dec 18;10(12):2733-42. doi: 10.1021/acschembio.5b00648. Epub 2015 Oct 5. ACS Chem Biol. 2015. PMID: 26415001 Free PMC article.
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin. ...Our results suggest that emerin self-assembly is necessary …
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been ident …
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 …
30 results