Heart to heart: from nuclearproteins to Emery-Dreifuss muscular dystrophy

Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure

1997 • 1,572 citations

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1999 • 1,318 citations

Duchenne Muscular Dystrophy

1995 • 1,084 citations

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1994 • 874 citations

Nuclear Lamins: Their Structure, Assembly, and Interactions

1998 • 708 citations

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

1993 • 525 citations

Muscular dystrophies and the dystrophin–glycoprotein complex

1997 • 379 citations

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1996 • 373 citations

Domain-specific Interactions of Human HP1-type Chromodomain Proteins and Inner Nuclear Membrane Protein LBR

1997 • 351 citations

Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

1996 • 337 citations

Internal lamin structures within G1 nuclei of human dermal fibroblasts

1993 • 241 citations

Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane

1994 • 240 citations

Myotonic Dystrophy, 2nd Ed.

1990 • 235 citations

Emery-Dreifuss syndrome.

1989 • 214 citations

A- and B-type lamins are differentially expressed in normal human tissues

1997 • 211 citations

Maturation of nuclear lamin A involves a specific carboxy‐terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina

1989 • 198 citations

Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope.

1995 • 181 citations

Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein

1999 • 181 citations

Emery‐dreifuss muscular dystrophy

1979 • 173 citations

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1997 • 154 citations

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

1997 • 147 citations

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype

1998 • 140 citations

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

1997 • 138 citations

The Human Lamin B Receptor/Sterol Reductase Multigene Family

1998 • 134 citations

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1998 • 130 citations

Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: distinction Versus other somatic cells

1990 • 127 citations

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)

1998 • 127 citations

cDNA Cloning and Characterization of Lamina-associated Polypeptide 1C (LAP1C), an Integral Protein of the Inner Nuclear Membrane

1995 • 117 citations

The Major Nuclear Envelope Targeting Domain of LAP2 Coincides with Its Lamin Binding Region but Is Distinct from Its Chromatin Interaction Domain

1998 • 115 citations

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

1992 • 115 citations

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

1999 • 104 citations

Weaving a pattern from disparate threads: lamin function in nuclear assembly and DNA replication

1994 • 102 citations

Chromosomal Assignment of Human Nuclear Envelope Protein Genes LMNA, LMNB1, and LBR by Fluorescencein SituHybridization

1996 • 99 citations

Structure and Mapping of the Human Thymopoietin (TMPO) Gene and Relationship of Human TMPO β to Rat Lamin-Associated Polypeptide 2

1995 • 87 citations

Emery-Dreifuss Muscular Dystrophy: Disease Spectrum and Differential Diagnosis

1988 • 86 citations

Duchenne muscular dystrophy, 2nd edn.

1993 • 83 citations

In vitro interaction of the carboxy‐terminal domain of lamin A with actin

1998 • 81 citations

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

1997 • 81 citations

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery–Dreifuss muscular dystrophy

1999 • 74 citations

Interactions amongDrosophilaNuclear Envelope Proteins Lamin, Otefin, and YA

1998 • 72 citations

Putting the genome on the map

1998 • 61 citations

X‐linked emery‐dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

1997 • 61 citations

Emerin and cardiomyopathy in Emery–Dreifuss muscular dystrophy1This paper was presented at the 3rd Congress of the World Muscle Society (WMS) in Naples, Italy, May 29–30 1998.1

1999 • 58 citations

The role of sequences unique to nuclear intermediate filaments in the targeting and assembly of human lamin B: evidence for lack of interaction of lamin B with its putative receptor

1998 • 51 citations

Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane

1997 • 51 citations

Identification of the lamina‐associated‐polypeptide‐2‐binding domain of B‐type lamin

1998 • 49 citations

Colocalization of Emerin and Lamins in Interphase Nuclei and Changes during Mitosis

1998 • 49 citations

Immunocytochemical detection of emerin within the nuclear matrix

1998 • 46 citations

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

1999 • 45 citations

Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

1998 • 44 citations

Human Chromosome 19p: A Fluorescence in Situ Hybridization Map with Genomic Distance Estimates for 79 Intervals Spanning 20 Mb

1994 • 43 citations

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

1991 • 32 citations

Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expression

1998 • 27 citations

Presence of emerinopathy in cases of rigid spine syndrome

1998 • 23 citations

Isolation and characterization of the complete mouse emerin gene

1997 • 16 citations