Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Intermediate filaments as mechanical integrators of cellular space

1980 • 1,973 citations

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

1999 • 1,288 citations

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

1998 • 1,061 citations

A Structural Scaffolding of Intermediate Filaments in Health and Disease

1998 • 1,003 citations

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.

1996 • 515 citations

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1998 • 489 citations

Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy

1999 • 449 citations

Cardiovascular Lesions and Skeletal Myopathy in Mice Lacking Desmin

1996 • 327 citations

Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments.

1992 • 302 citations

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1998 • 255 citations

Desmin in Muscle Formation and Maintenance: Knockouts and Consequences.

1997 • 213 citations

Null Mutation in the Desmin Gene Gives Rise to a Cardiomyopathy

1997 • 190 citations

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

1996 • 159 citations

Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity.

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

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

1999 • 147 citations

Cytoskeletal Control of Myogenesis: A Desmin Null Mutation Blocks the Myogenic Pathway during Embryonic Stem Cell Differentiation

1995 • 119 citations

Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency

1999 • 114 citations

Mechanical alterations in smooth muscle from mice lacking desmin.

1998 • 78 citations

Plectin is a linker of intermediate filaments to Z-discs in skeletal muscle fibers

1999 • 77 citations

Rimmed vacuoles with β-amyloid and ubiquitinated filamentous deposits in the muscles of patients with long-standing denervation (postpoliomyelitis muscular atrophy): similarities with inclusion body myositis

1998 • 60 citations

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

1996 • 60 citations

Assembly of carboxy-terminally deleted desmin in vimentin-free cells.

1991 • 57 citations

Desmin-related myopathies

1997 • 57 citations

Myofibrillar Myopathy. III. Abnormal Expression of Cyclin-dependent Kinases and Nuclear Proteins

1997 • 47 citations

The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis

1998 • 47 citations

Desmin gene expression in cardiac myocytes is responsive to contractile activity and stretch

1996 • 30 citations

Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases.

1994 • 29 citations

Muscle-specific expression of a dominant negative desmin mutant in transgenic mice.

1996 • 23 citations

Late‐onset muscle weakness in partial phosphofructokinase deficiency

1996 • 19 citations