254 related articles for article (PubMed ID: 23456229)
1. Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Tiffin HR; Jenkins ZA; Gray MJ; Cameron-Christie SR; Eaton J; Aftimos S; Markie D; Robertson SP
Neurogenetics; 2013 May; 14(2):113-21. PubMed ID: 23456229
[TBL] [Abstract][Full Text] [Related]
2. 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
J Neuromuscul Dis; 2016 Nov; 3(4):497-510. PubMed ID: 27911330
[TBL] [Abstract][Full Text] [Related]
3. 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
Hum Mutat; 2022 Sep; 43(9):1234-1238. PubMed ID: 35607917
[TBL] [Abstract][Full Text] [Related]
4. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L; Bertrand AT; Jais JP; Salih MA; Stojkovic T; Wehnert M; Hoeltzenbein M; Spuler S; Saitoh S; Verschueren A; Tranchant C; Beuvin M; Lacene E; Romero NB; Heath S; Zelenika D; Voit T; Eymard B; Ben Yaou R; Bonne G
Am J Hum Genet; 2009 Sep; 85(3):338-53. PubMed ID: 19716112
[TBL] [Abstract][Full Text] [Related]
5. Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1.
Gossios TD; Lopes LR; Elliott PM
Eur J Med Genet; 2013 May; 56(5):251-5. PubMed ID: 23500067
[TBL] [Abstract][Full Text] [Related]
6. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE; Nyegaard M; Fang M; Jiang H; Christensen R; Mølgaard H; Andersen H; Ulhøi BP; Østergaard JR; Væth S; Sommerlund M; de Brouwer AP; Zhang X; Jensen UB
Eur J Med Genet; 2015 Apr; 58(4):222-9. PubMed ID: 25724586
[TBL] [Abstract][Full Text] [Related]
7. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
San Román I; Navarro M; Martínez F; Albert L; Polo L; Guardiola J; García-Molina E; Muñoz-Esparza C; López-Ayala JM; Sabater-Molina M; Gimeno JR
Clin Genet; 2016 Aug; 90(2):171-6. PubMed ID: 26857240
[TBL] [Abstract][Full Text] [Related]
8. Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V; Kubota A; Garcia-Diaz B; Garone C; Akman HO; Sánchez-Gutiérrez D; Escudero LM; Kariya S; Homma S; Tanji K; Quinzii CM; Hirano M
Hum Mol Genet; 2015 Feb; 24(3):714-26. PubMed ID: 25274776
[TBL] [Abstract][Full Text] [Related]
9. Emery-Dreifuss muscular dystrophy.
Heller SA; Shih R; Kalra R; Kang PB
Muscle Nerve; 2020 Apr; 61(4):436-448. PubMed ID: 31840275
[TBL] [Abstract][Full Text] [Related]
10. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E; Olivé M; Taratuto AL; Richard P; Brochier G; Bitoun M; Gueneau L; Laforêt P; Stojkovic T; Maisonobe T; Monges S; Lubieniecki F; Vasquez G; Streichenberger N; Lacène E; Saccoliti M; Prudhon B; Alexianu M; Figarella-Branger D; Schessl J; Bonnemann C; Eymard B; Fardeau M; Bonne G; Romero NB
J Neuropathol Exp Neurol; 2013 Sep; 72(9):833-45. PubMed ID: 23965743
[TBL] [Abstract][Full Text] [Related]
11. Reducing body myopathy and other FHL1-related muscular disorders.
Schessl J; Feldkirchner S; Kubny C; Schoser B
Semin Pediatr Neurol; 2011 Dec; 18(4):257-63. PubMed ID: 22172421
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
[TBL] [Abstract][Full Text] [Related]
13. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Zhang Q; Bethmann C; Worth NF; Davies JD; Wasner C; Feuer A; Ragnauth CD; Yi Q; Mellad JA; Warren DT; Wheeler MA; Ellis JA; Skepper JN; Vorgerd M; Schlotter-Weigel B; Weissberg PL; Roberts RG; Wehnert M; Shanahan CM
Hum Mol Genet; 2007 Dec; 16(23):2816-33. PubMed ID: 17761684
[TBL] [Abstract][Full Text] [Related]
14. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
Giucă A; Mitu C; Popescu BO; Bastian AE; Capşa R; Mursă A; Rădoi V; Popescu BA; Jurcuţ R
BMC Med Genet; 2020 Sep; 21(1):188. PubMed ID: 32993534
[TBL] [Abstract][Full Text] [Related]
15. LINC complex alterations in DMD and EDMD/CMT fibroblasts.
Taranum S; Vaylann E; Meinke P; Abraham S; Yang L; Neumann S; Karakesisoglou I; Wehnert M; Noegel AA
Eur J Cell Biol; 2012 Aug; 91(8):614-28. PubMed ID: 22555292
[TBL] [Abstract][Full Text] [Related]
16. Emerin in health and disease.
Koch AJ; Holaska JM
Semin Cell Dev Biol; 2014 May; 29():95-106. PubMed ID: 24365856
[TBL] [Abstract][Full Text] [Related]
17. Electrocardiographic analysis in unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
Peters S
Int J Cardiol; 2016 Jul; 214():136. PubMed ID: 27061647
[No Abstract] [Full Text] [Related]
18. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Sarkozy A; Windpassinger C; Hudson J; Dougan CF; Lecky B; Hilton-Jones D; Eagle M; Charlton R; Barresi R; Lochmüller H; Bushby K; Straub V
Eur J Hum Genet; 2011 Oct; 19(10):1038-44. PubMed ID: 21629301
[TBL] [Abstract][Full Text] [Related]
19. [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
Rudenskaia GE; Tverskaia SM; Chukhrova AL; Zakliaz'minskaia EV; Kuropatkina IuV; Dadali EL; Perminov VS; Poliakov AV
Zh Nevrol Psikhiatr Im S S Korsakova; 2006; 106(10):58-65. PubMed ID: 17117676
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]