Access the full text.
Sign up today, get DeepDyve free for 14 days.
Michal Vytopil, Stanislav Voháňka, Josef Bednařík, Z. Kadaňka, Jiří Schildberger, Zdeněk Lukáš, D. Toniolo (1999)
Emery-Dreifuss muscular dystrophyJournal of Neurology
D. Fatkin, C. Macrae, T. Sasaki, M. Wolff, M. Porcu, M. Frenneaux, J. Atherton, H. Vidaillet, S Spudich, U. Girolami, J. Seidman, C. Seidman, F. Muntoni, G. Müehle, W. Johnson, B. McDonough (1999)
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.The New England journal of medicine, 341 23
S. Manilal, D. Récan, C. Sewry, M. Hoeltzenbein, S. Llense, F. Leturcq, N. Deburgrave, J. Barbot, N. Man, F. Muntoni, M. Wehnert, J. Kaplan, G. Morris (1998)
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.Human molecular genetics, 7 5
G. Morris, S. Manilal (1999)
Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.Human molecular genetics, 8 10
G. Brodsky, F. Muntoni, S. Miočiċ, G. Sinagra, C. Sewry, L. Mestroni (2000)
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.Circulation, 101 5
Teresa Sullivan, D. Escalante-Alcalde, H. Bhatt, M. Anver, N. Bhat, K. Nagashima, C. Stewart, B. Burke (1999)
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular DystrophyThe Journal of Cell Biology, 147
Thomas Höger, Georg Krohne, Jürgen Kleinschmidt (1991)
Interaction of Xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxyterminal domain.Experimental cell research, 197 2
J. Yates (1997)
43rd ENMC international workshop on Emery-Dreifuss muscular Dystrophy, 22 June 1996, Naarden, The NetherlandsNeuromuscular Disorders, 7
Emery (1966)
Unusual type of benign X-linked muscular dystrophyJ Neurol Neurosurg Psychiatry, 29
Nagano (1996)
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophyNat Genet, 12
P. Oefner, P. Underhill (1998)
DNA Mutation Detection Using Denaturing High‐Performance Liquid Chromatography (DHPLC)Current Protocols in Human Genetics, 19
H. Taniura, Charles Glass, L. Gerace (1995)
A chromatin binding site in the tail domain of nuclear lamins that interacts with core histonesThe Journal of Cell Biology, 131
S. Bione, E. Maestrini, S. Rivella, M. Mancini, S. Regis, G. Romeo, D. Toniolo (1994)
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophyNature Genetics, 8
Kazuhiro Furukawa, Charles Glass, Takao Kondo (1997)
Characterization of the chromatin binding activity of lamina-associated polypeptide (LAP) 2.Biochemical and biophysical research communications, 238 1
N. Stuurman, Susanne Heins, U. Aebi (1998)
Nuclear lamins: their structure, assembly, and interactions.Journal of structural biology, 122 1-2
T. Voit, O. Krogmann, H. Lenard, E. Neuen‐Jacob, W. Wechsler, H. Goebel, G. Rahlf, A. Lindinger, C. Nienaber (1988)
Emery-Dreifuss Muscular Dystrophy: Disease Spectrum and Differential DiagnosisNeuropediatrics, 19
Emery (1989)
Emery-Dreifuss syndromeJ Med Genet, 26
Robert Miller, R. Layzer, M. Mellenthin, M. Golabi, R. Francoz, J. Mall (1985)
Emery‐Dreifuss muscular dystrophy with autosomal dominant transmissionNeurology, 35
Jacqueline Taylor, C. Sewry, V. Dubowitz, F. Muntoni (1998)
Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expressionNeurology, 51
G. Fenichel, Yi Sul, A. Kilroy, Randall Blouin (1982)
An autosomal‐dominant dystrophy with humeropelvic distribution and cardiomyopathyNeurology, 32
Silvia Blone, K. Small, Veronica Aksmanovic, Michele D'Urso, Alfredo Ciccodicola, Luciano Merlini, Lucia Morandi, Wolfram Kress, John Yates, Stephen Warren, Daniela Toniolo (1995)
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.Human molecular genetics, 4 10
M. Katz, A. Siakotos (1995)
Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway.American journal of medical genetics, 57 2
永野 敦 (1996)
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
L. Cartegni, M. Barletta, R. Barresi, S. Squarzoni, P. Sabatelli, N. Maraldi, M. Mora, C. Blasi, F. Cornelio, L. Merlini, A. Villa, F. Cobianchi, D. Toniolo (1997)
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.Human molecular genetics, 6 13
Oefner (1998)
Comparative DNA mutation detection using denaturing high performance liquid chromatography (DHPLC)
K. Takamoto, K. Hirose, M. Uono, I. Nonaka (1984)
A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis.Archives of neurology, 41 12
K. Ørstavik, Reidar Kloster, C. Lippestad, L. Rode, T. Hovig, Kari Fuglseth (1990)
Emery‐Dreifuss syndrome in three generations of females, including identical twinsClinical Genetics, 38
Howard Worman, Jeffrey Yuan, Günter Blobel, S. Georgatos (1988)
A lamin B receptor in the nuclear envelope.Proceedings of the National Academy of Sciences of the United States of America, 85 22
A. Emery (1998)
Neuromuscular disorders : clinical and molecular genetics
Oefner (1995)
Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC)Am J Hum Genet
S. Kubo, Toshifumi Tsukahara, K. Arahata (1997)
[Emery-Dreifuss muscular dystrophy].Nihon rinsho. Japanese journal of clinical medicine, 55 12
H. Cao, R. Hegele (2000)
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.Human molecular genetics, 9 1
N. Dracopoli (1994)
Current protocols in human genetics
G. Bonne, M. Barletta, S. Varnous, H. Bécane, E. Hammouda, L. Merlini, F. Muntoni, C. Greenberg, F. Gary, J. Urtizberea, D. Duboc, M. Fardeau, D. Toniolo, K. Schwartz (1999)
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyNature Genetics, 21
F. Lin, H. Worman (1993)
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.The Journal of biological chemistry, 268 22
Duniela Toniolo, Carlo Minettit (1999)
Muscular dystrophies: alterations in a limited number of cellular pathways?Current opinion in genetics & development, 9 3
R. Foisner, L. Gerace (1993)
Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylationCell, 73
Charles Glass, James Glass, Hideo Taniura, Karl Hasel, Jonathan Blevitt, Larry Gerace (1993)
The alpha‐helical rod domain of human lamins A and C contains a chromatin binding site.The EMBO Journal, 12
Lori Martin, C. Crimaudo, L. Gerace (1995)
cDNA Cloning and Characterization of Lamina-associated Polypeptide 1C (LAP1C), an Integral Protein of the Inner Nuclear Membrane (*)The Journal of Biological Chemistry, 270
The American Journal of Human Genetics – Unpaywall
Published: Apr 1, 2000
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.