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2. 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]
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. PubMed ID: 10939567 [TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16478798 [TBL] [Abstract][Full Text] [Related]
5. Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. Holaska JM; Rais-Bahrami S; Wilson KL Hum Mol Genet; 2006 Dec; 15(23):3459-72. PubMed ID: 17067998 [TBL] [Abstract][Full Text] [Related]
7. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. Cenni V; Sabatelli P; Mattioli E; Marmiroli S; Capanni C; Ognibene A; Squarzoni S; Maraldi NM; Bonne G; Columbaro M; Merlini L; Lattanzi G J Med Genet; 2005 Mar; 42(3):214-20. PubMed ID: 15744034 [TBL] [Abstract][Full Text] [Related]
8. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Melcon G; Kozlov S; Cutler DA; Sullivan T; Hernandez L; Zhao P; Mitchell S; Nader G; Bakay M; Rottman JN; Hoffman EP; Stewart CL Hum Mol Genet; 2006 Feb; 15(4):637-51. PubMed ID: 16403804 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11930270 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 14959564 [TBL] [Abstract][Full Text] [Related]
11. 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; Spudich S; De Girolami U; Seidman JG; Seidman C; Muntoni F; Müehle G; Johnson W; McDonough B N Engl J Med; 1999 Dec; 341(23):1715-24. PubMed ID: 10580070 [TBL] [Abstract][Full Text] [Related]
12. Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. Reichart B; Klafke R; Dreger C; Krüger E; Motsch I; Ewald A; Schäfer J; Reichmann H; Müller CR; Dabauvalle MC BMC Cell Biol; 2004 Mar; 5():12. PubMed ID: 15053843 [TBL] [Abstract][Full Text] [Related]
13. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Ellis JA Cell Mol Life Sci; 2006 Dec; 63(23):2702-9. PubMed ID: 17013557 [TBL] [Abstract][Full Text] [Related]
14. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Bonne G; Quijano-Roy S Handb Clin Neurol; 2013; 113():1367-76. PubMed ID: 23622360 [TBL] [Abstract][Full Text] [Related]
16. How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? Holt I; Clements L; Manilal S; Morris GE Biochem Biophys Res Commun; 2001 Oct; 287(5):1129-33. PubMed ID: 11587540 [TBL] [Abstract][Full Text] [Related]
18. [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. Onishi Y; Higuchi J; Ogawa T; Namekawa A; Hayashi H; Odakura H; Goto K; Hayashi YK Rinsho Shinkeigaku; 2002 Feb; 42(2):140-4. PubMed ID: 12424964 [TBL] [Abstract][Full Text] [Related]
19. Emery-Dreifuss muscular dystrophy. Puckelwartz M; McNally EM Handb Clin Neurol; 2011; 101():155-66. PubMed ID: 21496632 [TBL] [Abstract][Full Text] [Related]
20. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. Holt I; Ostlund C; Stewart CL; Man Nt; Worman HJ; Morris GE J Cell Sci; 2003 Jul; 116(Pt 14):3027-35. PubMed ID: 12783988 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]