Overview of distal myopathies: from the clinical to the molecular
Data up to Jan 2025
Total Citations Per Year
Abstract
References (81)
Inclusion body myositis and myopathies
1995 • 806 citations
ON THE CLASSIFICATION, NATURAL HISTORY AND TREATMENT OF THE MYOPATHIES
1954 • 532 citations
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
1981 • 277 citations
“Rimmed vacuole myopathy” sparing the quadriceps
1984 • 254 citations
AUTOSOMAL RECESSIVE DISTAL MUSCULAR DYSTROPHY AS A NEW TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY
1986 • 203 citations
Inclusion body myositis: Clinical and pathological boundaries
1996 • 198 citations
IDIOPATHIC INFLAMMATORY MYOPATHIES
1997 • 193 citations
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
1994 • 185 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
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
1995 • 150 citations
Tibial Muscular Dystrophy
1993 • 144 citations
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
1980 • 140 citations
Autosomal dominant distal myopathy: linkage to chromosome 14.
1995 • 137 citations
Late onset hereditary distal myopathy
1974 • 121 citations
Desmin‐related neuromuscular disorders
1995 • 118 citations
Myopathia distalis tarda hereditaria
1966 • 113 citations
Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1
1996 • 102 citations
Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacoule formation
1985 • 93 citations
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
1994 • 92 citations
Distal myopathy
1977 • 89 citations
The Excretion of Inorganic Phosphorus in Children after the Administration of Glucose
1951 • 89 citations
MYOPATHIA DISTALIS TARDA HEREDITARIA.
1950 • 88 citations
Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31
1998 • 88 citations
Muscular dystrophy with separate clinical phenotypes in a large family
1991 • 88 citations
Vimentin and desmin in maturing skeletal muscle and developmental myopathies
1992 • 87 citations
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
1997 • 85 citations
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
1997 • 83 citations
A Lecture on Myopathy and a Distal Form: Delivered at the National Hospital for the Paralysed and Epileptic
1902 • 80 citations
Chromosome 12‐linked autosomal dominant scapuloperoneal muscular dystrophy
1996 • 79 citations
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
1996 • 71 citations
DISTAL MYOPATHY WITH RIMMED VACUOLE FORMATION
1989 • 70 citations
Autosomal dominant “spheroid body myopathy”
1978 • 70 citations
Mallory body‐like inclusions in a hereditary congenital neuromuscular disease
1983 • 65 citations
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
1996 • 64 citations
Vacuolar myopathy sparing the quadriceps
1993 • 63 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
Familial Inclusion Body Myositis Among Kurdish-Iranian Jews
1991 • 58 citations
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander)
1975 • 58 citations
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
1994 • 57 citations
Autosomal recessive distal dystrophy
1991 • 55 citations
High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy
1987 • 54 citations
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
1980 • 54 citations
Distal Myopathy Histochemical and Ultrastructural Studies
1982 • 52 citations
Various types of herediary inclusion body myopathies map to chromosome 9p1‐q1
1997 • 49 citations
Hereditary distal myopathy with filamentous inclusions
1982 • 42 citations
Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
1994 • 40 citations
STUDIES IN DISEASES OF MUSCLE
1943 • 39 citations
Hereditary Distal Myopathy With Onset in Infancy
1965 • 39 citations
Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases
1987 • 38 citations
Sporadic distal myopathy with early adult onset
1979 • 38 citations
Neurogenic involvement in distal myopathy (Welander)
1989 • 37 citations
Inclusion body myositis and welander distal myopathy: a clinical, neurophysiological and morphological comparison
1991 • 35 citations
HOMOZYGOUS APPEARANCE OF DISTAL MYOPATHY
1957 • 34 citations
Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms.
1991 • 32 citations
Distal myopathy with onset in early infancy
1968 • 30 citations
A new type of distal myopathy in two brothers
1981 • 29 citations
Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy
1996 • 28 citations
DISTAL MUSCULAR DYSTROPHY IN AN ENGLISH FAMILY
1971 • 28 citations
Distal muscular dystrophy with autosomal recessive inheritance
1984 • 28 citations
Infantile autosomal dominant distal myopathy.
2009 • 27 citations
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)
1991 • 26 citations
Sensory involvement in distal myopathy (Welander)
1987 • 23 citations
Subsarcolemmal Vermiform Deposits in Skeletal Muscle, Associated with Familial Cardiomyopathy: Report of Two Cases of a New Entity
1987 • 23 citations
Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study
1995 • 22 citations
Desmin myopathy with cardiomyopathy
1995 • 22 citations
Hereditary distal myopathy with onset in early infancy
1978 • 22 citations
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
1995 • 22 citations
Distal Myopathies and Dystrophies
1993 • 21 citations
Late distal myopathy
1962 • 20 citations
Rimmed vacuolar distal myopathy
1987 • 19 citations
Welander distal myopathy is not linked to other defined distal myopathy gene loci
1997 • 17 citations
MYOPATHIA DISTALIS TARDA HEREDITARIA. Distal Late Hereditary Myopathy
1960 • 16 citations
Late onset foot-drop muscular dystrophy with rimmed vacuoles
1994 • 15 citations
Disorders of Voluntary Muscle, 6th Ed.
1995 • 14 citations
Autosomal recessive distal muscular dystrophy: Normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers
1994 • 14 citations
Distal Vacuolar Myopathy With Complete Heart Block
1988 • 12 citations
Autosomal recessive distal myopathy.
1988 • 11 citations
Distal myopathies 25th ENMC international workshop 18–20 November 1994, Naarden, The Netherlands
1995 • 10 citations
Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31–33
1997 • 5 citations
Autosomal recessive distal muscular dystrophy
1997 • 5 citations