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Items: 1 to 20 of 148

1.

A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy.

Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadanka Z, Schildberger J, Ricotti R, Bione S, Toniolo D.

Neuromuscul Disord. 2001 May;11(4):411-3.

PMID:
11369194
2.

Emery-Dreifuss muscular dystrophy.

Zacharias AS, Wagener ME, Warren ST, Hopkins LC.

Semin Neurol. 1999;19(1):67-79. Review.

PMID:
10711990
3.

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
4.

X-linked form of Emery-Dreifuss muscular dystrophy.

Hayashi YK.

Acta Myol. 2005 Oct;24(2):98-103. Review.

PMID:
16550925
5.

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, RĂ©can-Budiartha D, Bonne G.

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

PMID:
17536044
6.

The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy.

Morris GE.

Trends Mol Med. 2001 Dec;7(12):572-7.

PMID:
11733221
7.

Emery-Dreifuss muscular dystrophy.

Helbling-Leclerc A, Bonne G, Schwartz K.

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

8.

A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.

de Koning Gans PA, Ginjaar I, Bakker E, Yates JR, den Dunnen JT.

Neuromuscul Disord. 1999 Jun;9(4):247-50.

PMID:
10399752
9.

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

Ellis JA, Yates JR, Kendrick-Jones J, Brown CA.

Hum Genet. 1999 Mar;104(3):262-8.

PMID:
10323252
10.

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D.

Am J Hum Genet. 2000 Apr;66(4):1407-12. Epub 2000 Mar 16.

11.

Emery dreifuss muscular dystrophy: a clinico-pathological study.

Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D.

Neurol India. 2006 Jun;54(2):197-9.

12.

[A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy].

Hasegawa T, Kobayashi K, Arahata K, Itoyama Y.

Rinsho Shinkeigaku. 1999 Nov;39(11):1138-43. Japanese.

PMID:
10689937
13.

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.

Wulff K, Parrish JE, Herrmann FH, Wehnert M.

Hum Mutat. 1997;9(6):526-30.

PMID:
9195226
14.

[DNA-diagnosis of Emery-Dreifuss muscular dystrophy].

Tverskaia SM, Rudenskaia GE, Chukhrova AL, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2003;103(6):25-8. Russian.

PMID:
12872622
15.

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.

16.

[Emery-Dreifuss muscular dystrophy].

Kubo S, Tsukahara T, Arahata K.

Nihon Rinsho. 1997 Dec;55(12):3186-9. Review. Japanese.

PMID:
9436433
17.

Emery-Dreifuss muscular dystrophy - a 40 year retrospective.

Emery AE.

Neuromuscul Disord. 2000 Jun;10(4-5):228-32. Review.

PMID:
10838246
18.

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Zhang M, Chen J, Si D, Zheng Y, Jiao H, Feng Z, Hu Z, Duan R.

BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77.

19.

Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Funakoshi M, Tsuchiya Y, Arahata K.

Neuromuscul Disord. 1999 Mar;9(2):108-14. Review.

PMID:
10220866
20.

[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
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