| 1 | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652) | Scharner J.... Zammit P.S. | 2011 | LMNA |
| 2 | TMEM43 mutations in Emery-Dreifuss muscular dystrophy -related myopathy. (21391237) | Liang W.C.... Hayashi Y.K. | 2011 | TMEM43 |
| 3 | Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. (19070492) | Park Y.E.... Nishino I. | 2009 | LMNA |
| 4 | Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551) | Brown S.C.... Sewry C.A. | 2008 | LMNA, EMD |
| 5 | A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. (18816602) | Kim H.Y.... Sung I.H. | 2008 | LMNA |
| 6 | Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. (17462627) | Wheeler M.A.... Ellis J.A. | 2007 | SYNE1, EMD, SYNE2 |
| 7 | Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (17761684) | Zhang Q.... Shanahan C.M. | 2007 | LMNA, SYNE1, EMD |
| 8 | Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). (17107595) | Mittelbronn M.... Bornemann A. | 2006 | LMNA |
| 9 | Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy (17117676) | Rudenskaia G.E.... Poliakov A.V. | 2006 | LMNA, EMD |
| 10 | Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. (16761279) | Holaska J.M.... Wilson K.L. | 2006 | EMD |
| 11 | Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. (16825283) | Wang Y.... Worman H.J. | 2006 | LMNA |
| 12 | Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197) | Holt I.... Morris G.E. | 2006 | LMNA, EMD |
| 13 | Emery-Dreifuss muscular dystrophy: case report (16791377) | Carsten A.L.... Werneck L.C. | 2006 | EMD |
| 14 | The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A. (16972941) | Roberts R.C.... Ellis J.A. | 2006 | EMD |
| 15 | Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy. (16164199) | Fujiita T.... Mabuchi H. | 2005 | EMD |
| 16 | Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. (15744034) | Cenni V.... Lattanzi G. | 2005 | LMNA |
| 17 | X-linked form of Emery-Dreifuss muscular dystrophy. (16550925) | Hayashi Y.K. | 2005 | LMNA, EMD |
| 18 | Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. (15053843) | Reichart B.... Dabauvalle M.C. | 2004 | LMNA, SUN2 |
| 19 | Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (12729796) | Bechert K.... Osborn M. | 2003 | LMNA |
| 20 | Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. (12649505) | Boriani G.... Branzi A. | 2003 | LMNA |
| 21 | Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. (14959564) | NIEBROJ-DOBOSZ I.... Hausmanowa-Petrusewicz I. | 2003 | LMNB2, EMD |
| 22 | Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. (14659775) | Sanna T.... Bellocci F. | 2003 | LMNA |
| 23 | Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. (11930270) | Mercuri E.... Muntoni F. | 2002 | EMD |
| 24 | Emery-Dreifuss muscular dystrophy. (11973618) | Helbling-Leclerc A.... Schwartz K. | 2002 | LMNA, EMD |
| 25 | Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. (12398831) | Maraldi N.M.... Squarzoni S. | 2002 | LMNA, EMD |
| 26 | Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. (11792810) | Raharjo W.H.... Burke B. | 2001 | LMNA, EMD |
| 27 | Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (11470279) | Wolff N.... Zinn-Justin S. | 2001 | EMD |
| 28 | Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. (11792809) | Ostlund C.... Worman H.J. | 2001 | LMNA, LMNB1, LMNB2 |
| 29 | Novel and recurrent mutations in lamin A/C in patients with Emery- Dreifuss muscular dystrophy. (11503164) | Brown C.A.... Spence J.E. | 2001 | LMNA |
| 30 | The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy. (11733221) | Morris G.E. | 2001 | LMNA, EMD |
| 31 | Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. (11063761) | Canki-Klain N.... Zurak N. | 2000 | EMD |
| 32 | Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. (11053683) | Di Blasi C.... Mora M. | 2000 | EMD |
| 33 | Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. (10939567) | Bonne G.... Muntoni F. | 2000 | LMNA, SUN2 |
| 34 | Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. (10739764) | Raffaele di Barletta M.... Toniolo D. | 2000 | LMNA |
| 35 | Emery-Dreifuss muscular dystrophy - a 40 year retrospective. (10838246) | Emery A.E. | 2000 | LMNA |
| 36 | Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252) | Ellis J.A.... Brown C.A. | 1999 | EMD |
| 37 | Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. (10220866) | Funakoshi M.... Arahata K. | 1999 | EMD |
| 38 | Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. (10092874) | Tsuchiya Y.... Arahata K. | 1999 | EMD |
| 39 | A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. (10399752) | De Koning Gans P.A.... den Dunnen J.T. | 1999 | EMD |
| 40 | A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy (10689937) | Hasegawa T.... Itoyama Y. | 1999 | EMD |
| 41 | Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. (9949197) | Manilal S.... Morris G.E. | 1999 | LMNB1, EMD |
| 42 | Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559) | Muntoni F.... Dubowitz V. | 1998 | EMD |
| 43 | Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. (9472006) | Ellis J.A.... Kendrick-Jones J. | 1998 | EMD |
| 44 | Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. (9536090) | Manilal S.... Morris G.E. | 1998 | EMD |
| 45 | Emery-Dreifuss muscular dystrophy (9436433) | Kubo S.... Arahata K. | 1997 | EMD |
| 46 | X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (9266737) | Mora M.... Toniolo D. | 1997 | EMD |
| 47 | The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595) | Manilal S.... Morris G.E. | 1996 | EMD |
| 48 | Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. (8589715) | Nagano A.... Arahata K. | 1996 | EMD |
| 49 | Identification of a novel X-linked gene responsible for Emery- Dreifuss muscular dystrophy. (7894480) | Bione S.... Toniolo D. | 1994 | EMD |
| 50 | Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII. (1525559) | Cole C.G.... Bobrow M. | 1992 | EMD, OPN1LW |
