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Items: 1 to 20 of 101

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. doi: 10.1007/s10048-013-0359-8. Epub 2013 Mar 2.

PMID:
23456229
2.

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. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27.

3.

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. doi: 10.1016/j.ejmg.2013.03.001. Epub 2013 Mar 14.

PMID:
23500067
4.

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. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25.

PMID:
25724586
5.

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. doi: 10.1111/cge.12760. Epub 2016 Mar 23.

PMID:
26857240
6.

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 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

7.

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.

PMID:
10939567
8.

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. doi: 10.1016/j.spen.2011.10.007. Review.

PMID:
22172421
9.

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 1;16(23):2816-33. Epub 2007 Aug 29.

PMID:
17761684
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. doi: 10.1097/NEN.0b013e3182a23506.

11.

Emery-Dreifuss Muscular Dystrophy.

Bonne G, Leturcq F, Ben Yaou R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Sep 29 [updated 2015 Nov 25].

12.

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. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

13.

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. doi: 10.1016/j.ejcb.2012.03.003. Epub 2012 May 1.

14.

Emerin in health and disease.

Koch AJ, Holaska JM.

Semin Cell Dev Biol. 2014 May;29:95-106. doi: 10.1016/j.semcdb.2013.12.008. Epub 2013 Dec 21. Review.

15.

Electrocardiographic analysis in unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

Peters S.

Int J Cardiol. 2016 Jul 1;214:136. doi: 10.1016/j.ijcard.2016.03.135. Epub 2016 Mar 26. No abstract available.

PMID:
27061647
16.

[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. Russian.

PMID:
17117676
17.

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G.

Neurology. 2007 May 29;68(22):1883-94.

PMID:
17536044
18.

Investigating the pathology of Emery-Dreifuss muscular dystrophy.

Brown SC, Piercy RJ, Muntoni F, Sewry CA.

Biochem Soc Trans. 2008 Dec;36(Pt 6):1335-8. doi: 10.1042/BST0361335. Review.

PMID:
19021551
19.

Emery-Dreifuss muscular dystrophy.

Puckelwartz M, McNally EM.

Handb Clin Neurol. 2011;101:155-66. doi: 10.1016/B978-0-08-045031-5.00012-8. Review.

PMID:
21496632
20.

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.

Am J Med Genet. 2001 Sep 1;102(4):359-67.

PMID:
11503164

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