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Transcription factor EB activation rescues advanced αB-crystallin mutation-induced cardiomyopathy by normalizing desmin localization [PDF]
, 2019 Benjamin, Ivor J +12 more
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Endurance swimming exacerbates mitochondrial myopathy in mice with high mtDNA deletions
Sho Hanada +4 more
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Journal of the Neurological Sciences, 1981
Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Annals of Neurology, 1985
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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Acta Physiologica Scandinavica, 2001
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
openaire +3 more sources
Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
openaire +4 more sources
Journal of Inherited Metabolic Disease, 1987
AbstractThe mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of β‐oxidation; (3) defects of the Krebs cycle, such as fumarase ...
DiMauro S. +5 more
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AbstractThe mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of β‐oxidation; (3) defects of the Krebs cycle, such as fumarase ...
DiMauro S. +5 more
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Myopathy with mitochondrial inclusions
Virchows Archiv B Cell Pathology, 1971In a case of atypic myopathy which was poorly defineable by clinical examination and light microscopy, crystalline mitochondrial inclusion bodies were revealed electron-microscopically. In accordance with literary data and their own observation the authors consider it doubtful that these findings should be related to the pathological process of the ...
B, Benke, M, Szendröi
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