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Results: 1 to 20 of 148

1.

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D.

J Med Genet. 2003 Dec;40(12):e132. No abstract available.

PMID:
14684700
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.

Raharjo WH, Enarson P, Sullivan T, Stewart CL, Burke B.

J Cell Sci. 2001 Dec;114(Pt 24):4447-57.

PMID:
11792810
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

PMID:
10580070
[PubMed - indexed for MEDLINE]
Free Article
5.

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, Ricci E, Silvestri G, Giglio V, Messano L, Zachara E, Bellocci F.

Eur Heart J. 2003 Dec;24(24):2227-36.

PMID:
14659775
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

J Hum Genet. 2002;47(5):225-8.

PMID:
12032588
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Mutation analysis in Emery-Dreifuss muscular dystrophy.

Nevo Y, Al-Lozi M, Parsadanian AS, Elliott JL, Connolly AM, Pestronk A.

Pediatr Neurol. 1999 Jul;21(1):456-9.

PMID:
10428430
[PubMed - indexed for MEDLINE]
9.

[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
[PubMed - indexed for MEDLINE]
10.

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands.

Am Heart J. 2007 Dec;154(6):1130-9. Epub 2007 Sep 14.

PMID:
18035086
[PubMed - indexed for MEDLINE]
11.

Emery-Dreifuss muscular dystrophy.

Helbling-Leclerc A, Bonne G, Schwartz K.

Eur J Hum Genet. 2002 Mar;10(3):157-61. Review.

PMID:
11973618
[PubMed - indexed for MEDLINE]
Free Article
12.

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PMID:
11102973
[PubMed - indexed for MEDLINE]
13.

Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Fidzianska A, Hausmanowa-Petrusewicz I.

Acta Myol. 2003 Sep;22(2):52-7.

PMID:
14959564
[PubMed - indexed for MEDLINE]
14.

Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

Motsch I, Kaluarachchi M, Emerson LJ, Brown CA, Brown SC, Dabauvalle MC, Ellis JA.

Eur J Cell Biol. 2005 Sep;84(9):765-81.

PMID:
16218190
[PubMed - indexed for MEDLINE]
15.

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP.

Brain. 2006 Apr;129(Pt 4):996-1013. Epub 2006 Feb 14.

PMID:
16478798
[PubMed - indexed for MEDLINE]
Free Article
16.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G.

Muscle Nerve. 2004 Oct;30(4):444-50.

PMID:
15372542
[PubMed - indexed for MEDLINE]
17.

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F.

Neuropediatrics. 2002 Feb;33(1):10-4.

PMID:
11930270
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.

Morris GE, Manilal S.

Hum Mol Genet. 1999;8(10):1847-51. Review.

PMID:
10469836
[PubMed - indexed for MEDLINE]
Free Article
20.

Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.

Yazdanpanah P, Javan A, Nadimi B, Shirazi HR.

East Mediterr Health J. 2007 Jan-Feb;13(1):201-5. Review. No abstract available.

PMID:
17546924
[PubMed - indexed for MEDLINE]

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