| 1 | EMD2, LMNA
|
| Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy.
|
| Vignier N, Mougenot N, Bonne G, Muchir A.
|
| Biochem Biophys Rep 19:100664. doi: 10.1016/j.bbrep.2019.100664. eCollection 2019 Sep.
2019
|
| 2 | EMD2, EMD3, LMNA
|
| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
|
| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
|
| Hum Mutat 32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25. 2011
|
| 3 | EMD2, EMD3, LMNA
|
| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
|
| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
|
| Hum Mutat um Mutat. 2010 Sep 16. [Epub ahead of print]PMID: 20848652 2010
|
| 4 | CMD1A, EMD2, EMD3, LMNA
|
| Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
|
| Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ.
|
| Hum Mol Genet 18(2):241-7. Epub 2008 Oct 16.
2009
|
| 5 | EMD2, EMD3, LMNA
|
| Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
|
| Håkelien AM, Delbarre E, Gaustad KG, Buendia B, Collas P.
|
| Exp Cell Res 314(8):1869-80. Epub 2008 Mar 7.PMID: 18396274 2008
|
| 6 | EMD2, EMD3, LGMD1B, LMNA
|
| Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
|
| Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC.
|
| Neurology 69(12):1285-92. Epub 2007 Mar 21.PMID: 17377071 2007
|
| 7 | EMD2, LMNA
|
| A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
|
| Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG.
|
| Muscle Nerve 36(6):828-32.PMID: 17701980 2007
|
| 8 | EMD, LMNA, EMD2
|
| 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 15(4):637-51. Epub 2006 Jan 10. 2006
|
| 9 | LMNA, EMD2, EMD3
|
| Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
|
| Wang Y, Herron AJ, Worman HJ.
|
| Hum Mol Genet 15(16):2479-89. Epub 2006 Jul 6. 2006
|
| 10 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
|
| The laminopathies: a clinical review.
|
| Rankin J, Ellard S.
|
| Clin Genet 70(4):261-74. 2006
|
| 11 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
|
| Human laminopathies: nuclei gone genetically awry.
|
| Capell BC, Collins FS.
|
| Nat Rev Genet 7(12):940-52. 2006
|
| 12 | EMD2, LMNA
|
| Cardiac involvement in Emery-Dreifuss muscular dystrophy.
|
| Wessely R, Seidl S, Schomig A.
|
| Clin Genet 67(3):220-3. 2005
|
| 13 | LMNA, PRO1, EMD2, CMD1A, FPLD2
|
| LMNA mutation position predicts organ system involvement in laminopathies.
|
| Hegele R.
|
| Clin Genet 68(1):31-4. 2005
|
| 14 | LMNA, EMD2
|
| Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy.
|
| Shumaker DK, Lopez-Soler RI, Adam SA, Herrmann H, Moir RD, Spann TP, Goldman RD.
|
| Proc Natl Acad Sci U S A 102(43):15494-9. Epub 2005 Oct 14. 2005
|
| 15 | LMNA, CMT2B1, EMD3, EMD2, LGMD1B
|
| Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
|
| Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC.
|
| J Neurol Neurosurg Psychiatry 76(7):1019-21. 2005
|
| 16 | LMNA , FPLD2, EMD2
|
| Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells.
|
| Bechert K, Lagos-Quintana M, Harborth J, Weber K, Osborn M.
|
| Exp Cell Res 286(1):75-86. 2003
|
| 17 | LMNA, EMD2, LGMD1B
|
| 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 47(5):225-8. 2002
|
| 18 | LMNA, EMD2
|
| Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
| van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M.
|
| Neurology 59(4):620-3. 2002
|
| 19 | EMD2, LMNA
|
| 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 102(4):359-67. 2001
|
| 20 | EMD2, EMD3, LMNA
|
| 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 66(4):1407-12. 2000
|
| 21 | CMD1A, EMD2, FPLD2, LGMD1B, LMNA
|
| Mutations in the LMNA gene encoding lamin A/C.
|
| Genschel J, Schmidt HH.
|
| Hum Mutat 16(6):451-9. 2000
|
| 22 | EMD2, LMNA
|
| 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, Becane 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 48(2):170-80. 2000
|
| 23 | EMD2, LMNA
|
| Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.
|
| Manilal S, et al.
|
| Hum Mol Genet 8 : 353-359. 1999
|
| 24 | EMD2, LMNA
|
| Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
|
| Bonne G, et al.
|
| Nat Genet 21(3):285-8. 1999
|
| 25 | EMD, EMD2, EMD3
|
| Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
|
| Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al.
|
| Hum Mol Genet 4(10):1859-63. 1995
|