A Missense Mutation in the Desmin Rod Domain Is Associated with Autosomal Dominant Distal Myopathy, and Exerts a Dominant Negative Effect on Filament Formation

A new technique for the assay of infectivity of human adenovirus 5 DNA

1973 • 9,740 citations

INTERMEDIATE FILAMENTS: Structure, Dynamics, Function and Disease

1994 • 1,408 citations

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

1998 • 1,061 citations

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1998 • 489 citations

Desmin and vimentin coexist at the periphery of the myofibril Z disc

1979 • 327 citations

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1998 • 255 citations

Direct demonstration of the presence of two immunologically distinct intermediate-sized filament systems in the same cell by double immunofluorescence microscopy

1980 • 211 citations

THE CYTOSKELETON AND DISEASE: Genetic Disorders of Intermediate Filaments

1996 • 177 citations

Structural features in the heptad substructure and longer range repeats of two-stranded α-fibrous proteins

1990 • 161 citations

Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity. II. Immunocytochemical Analysis Reveals Accumulation of Multiple Other Proteins

1996 • 159 citations

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.

1992 • 152 citations

Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network.

1990 • 144 citations

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

1980 • 140 citations

Intermediate filament structure and assembly

1993 • 130 citations

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.

1993 • 122 citations

Desmin‐related neuromuscular disorders

1995 • 118 citations

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

1995 • 114 citations

Intermediate-size Filaments: Changes in Synthesis and Distribution in Cells of the Myogenic and Neurogenic Lineages

1982 • 111 citations

Colocalization of Nestin and Vimentin/Desmin in Skeletal Muscle Cells Demonstrated by Three-Dimensional Fluorescence Digital Imaging Microscopy

1994 • 109 citations

Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship

1994 • 92 citations

Intermediate filaments and cytoplasmic networking: new connections and more functions

1997 • 76 citations

Neuromuscular disorders : clinical and molecular genetics

1998 • 68 citations

[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

1978 • 63 citations

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

1996 • 60 citations

Visualization of longitudinally-oriented intermediate filaments in frozen sections of chicken cardiac muscle by a new staining method.

1983 • 58 citations

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

1994 • 57 citations

Myopathy associated with desmin type intermediate filaments

1989 • 55 citations

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

1993 • 54 citations

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

1992 • 54 citations

Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells

1980 • 54 citations

Overview of distal myopathies: from the clinical to the molecular

1998 • 46 citations

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.

1994 • 44 citations

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

1994 • 40 citations

Patterns of abnormal protein expression in target formations and unstructured cores

1996 • 31 citations

Biochemical and structural aspects of transiently and stably expressed mutant desmin in vimentin-free and vimentin-containing cells.

1992 • 29 citations

Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage.

1991 • 27 citations

Familial desmin-related myopathies and cardiomyopathies — from myopathology to molecular and clinical genetics

1996 • 24 citations

Subsarcolemmal Vermiform Deposits in Skeletal Muscle, Associated with Familial Cardiomyopathy: Report of Two Cases of a New Entity

1987 • 23 citations

Desmin myopathy with cardiomyopathy

1995 • 22 citations

Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

2000 • 14 citations