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3. A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy. Zhou J; Li H; Li X; Li Y; Yang M; Shi G; Xu D; Shi X Brain Behav; 2019 Jan; 9(1):e01167. PubMed ID: 30506906 [TBL] [Abstract][Full Text] [Related]
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6. Partial deficiency of emerin caused by a splice site mutation in EMD. Yuan J; Ando M; Higuchi I; Sakiyama Y; Matsuura E; Michizono K; Watanabe O; Nagano S; Inamori Y; Hashiguchi A; Higuchi Y; Yoshimura A; Takashima H Intern Med; 2014; 53(14):1563-8. PubMed ID: 25030574 [TBL] [Abstract][Full Text] [Related]
7. The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy. Morris GE Trends Mol Med; 2001 Dec; 7(12):572-7. PubMed ID: 11733221 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11792810 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 10399752 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 10323252 [TBL] [Abstract][Full Text] [Related]
13. 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; 15():77. PubMed ID: 24997722 [TBL] [Abstract][Full Text] [Related]
14. X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures. Brisset M; Ben Yaou R; Carlier RY; Chanut A; Nicolas G; Romero NB; Wahbi K; Decrocq C; Leturcq F; Laforêt P; Malfatti E Neuromuscul Disord; 2019 Sep; 29(9):678-683. PubMed ID: 31474437 [TBL] [Abstract][Full Text] [Related]
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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; 68(22):1883-94. PubMed ID: 17536044 [TBL] [Abstract][Full Text] [Related]
18. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Muntoni F; Bonne G; Goldfarb LG; Mercuri E; Piercy RJ; Burke M; Yaou RB; Richard P; Récan D; Shatunov A; Sewry CA; Brown SC Brain; 2006 May; 129(Pt 5):1260-8. PubMed ID: 16585054 [TBL] [Abstract][Full Text] [Related]
19. Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation. Wada E; Matsumoto K; Susumu N; Kato M; Hayashi YK J Physiol Sci; 2023 Nov; 73(1):27. PubMed ID: 37940872 [TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 10739764 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]