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

MOLECULAR AND CELLULAR BIOLOGY OF INTERMEDIATE FILAMENTS

1988 • 1,395 citations

Primary structure of dystrophin-related protein

1992 • 380 citations

The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease

1998 • 334 citations

The essentiality of histo‐ and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease

1962 • 332 citations

Cellular and Molecular Biology of Intermediate Filaments

1990 • 262 citations

Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines.

1991 • 258 citations

A network of transverse and longitudinal intermediate filaments is associated with sarcomeres of adult vertebrate skeletal muscle.

1983 • 240 citations

Phosphorylation of desmin in vitro inhibits formation of intermediate filaments; identification of three kinase A sites in the aminoterminal head domain.

1988 • 224 citations

Intermediate filament reconstitution in vitro. The role of phosphorylation on the assembly-disassembly of desmin.

1988 • 205 citations

The existence of an insoluble Z disc scaffold in chicken skeletal muscle

1978 • 192 citations

The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibres in dystrophies and inflammatory myopathies

1992 • 168 citations

Conchotome and needle percutaneous biopsy of skeletal muscle.

1987 • 156 citations

Light and electron microscopic localization of beta-amyloid protein in muscle biopsies of patients with inclusion-body myositis.

1992 • 149 citations

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

1980 • 140 citations

Proteolysis of Vimentin and Desmin by the Ca²⁺-Activated Proteinase Specific for These Intermediate Filament Proteins

1983 • 139 citations

Late onset hereditary distal myopathy

1974 • 121 citations

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

1982 • 111 citations

Proteolysis of vimentin and desmin by the Ca2+-activated proteinase specific for these intermediate filament proteins.

1983 • 104 citations

Storage of phosphorylated desmin in a familial myopathy

1988 • 102 citations

Immunocytochemical demonstration of myosin heavy chain expression in human muscle

1989 • 99 citations

Properties of a Ca²⁺‐Activated Protease Specific for the Intermediate‐Sized Filament Protein Vimentin in Ehrlich‐Ascites‐Tumour Cells

1981 • 94 citations

Inclusion body myositis: A chronic persistent mumps myositis?

1986 • 89 citations

Distal myopathy

1977 • 89 citations

Myopathy with respiratory failure and typical myofibrillar lesions

1990 • 88 citations

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

1992 • 87 citations

The pattern of involvement of adult‐onset acid maltase deficiency at autopsy

1987 • 83 citations

The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle

1980 • 74 citations

The cytoplasmic body: Another structural anomaly of the Z disk

1969 • 70 citations

An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments

1981 • 69 citations

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein

1983 • 68 citations

Mallory body‐like inclusions in a hereditary congenital neuromuscular disease

1983 • 65 citations

The adult form of acid maltase (α‐1,4‐glucosidase) deficiency

1977 • 58 citations

Skeletal muscle in idiopathic cardiomyopathy

1972 • 57 citations

Myopathy associated with desmin type intermediate filaments

1989 • 55 citations

Immunocytochemical localization of desmin at human neuromuscular junctions

1990 • 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

Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin

1990 • 52 citations

Lectin binding and desmin staining during bupivicaine‐induced necrosis and regeneration in rat skeletal muscle

1988 • 51 citations

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study

1991 • 49 citations

Benign focal amyotrophy

1978 • 46 citations

A form of congenital muscular dystrophy

1980 • 45 citations

Immunochemical identification of desmin in Torpedo postsynaptic membranes and at the rat neuromuscular junction

1989 • 44 citations

Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss

1979 • 43 citations

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

1992 • 41 citations

Lectin binding and desmin expression during necrosis, regeneration, and neurogenic atrophy of human skeletal muscle

1989 • 40 citations

Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18- to 20-nm filaments

1990 • 40 citations

CONGENITAL MYOPATHY WITH CYTOPLASMIC BODIES

1981 • 39 citations

Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases

1987 • 38 citations

Neurogenic involvement in distal myopathy (Welander)

1989 • 37 citations

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

1989 • 36 citations

Inclusion body myositis and welander distal myopathy: a clinical, neurophysiological and morphological comparison

1991 • 35 citations

Intermediate filaments in human myopathies.

1983 • 35 citations

Intermediate Filament-Associated Proteins

1990 • 30 citations

Axonal filamentous spheroids associated with cardiomyopathy with “targetoid fibers”

1974 • 29 citations

Muscle fibre type composition in distal myopathy (Welander)

1984 • 28 citations

Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7.

1993 • 25 citations

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

1987 • 23 citations

Human desmin gene: utilization as a marker of human muscle differentiation.

1988 • 21 citations

Spheroid-cytoplasmic complexes in a congenital myopathy.

1991 • 21 citations

Emery-dreifuss syndrome

1986 • 16 citations

Expression of desmin gene in skeletal and smooth muscle by in situ hybridization using a human desmin gene probe.

1990 • 16 citations

The spectrum of cytoplasmic body myopathy: Report of a congenital severe case

1989 • 14 citations

Expression of the 43 kDa dystrophin-associated glycoprotein in human neuromuscular disease

1994 • 14 citations

Distal myopathy with focal granular degenerative change in vacuolated type 2 fibers.

1988 • 5 citations