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(1)Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies(Resumes of diseration Vol.42(2003))

, 2003
聖美 古村
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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

, 1991
M A McShane, Simon Hammans, M G Sweeney, Ian Holt, T. James Beattie, E M Brett, A. E. Harding   +6 more
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Mitochondrial Encephalomyopathies

Neurologic Clinics, 1988
Mitochondrial encephalomyopathies are neurodegenerative disorders characterized by ragged-red myopathy and encephalopathy, which are recognized with increasing frequency. This article presents the clinical features; pertinent historical, biochemical, and genetic aspects; evaluation; and treatment of mitochondrial encephalomyopathies of childhood and ...
P L, Peterson, M E, Martens, C P, Lee
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Mitochondrial encephalomyopathies: therapeutic approaches

Neurological Sciences, 2000
Therapy of mitochondrial encephalomyopathies (defined restrictively as defects of the mitochondrial respiratory chain) is woefully inadequate, despite great progress in our understanding of the molecular bases of these disorders. We review available and experimental therapeutic approaches, which fall into seven categories: (1) palliative therapy; (2 ...
S, DiMauro, M, Hirano, E A, Schon
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Mitochondrial Encephalomyopathies

Neurologic Clinics, 1990
The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation. Therefore, attempts at classification have generated some controversy.
S, DiMauro, E, Bonilla, A, Lombes, S, Shanske, C, Minetti, C T, Moraes   +5 more
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Mitochondrial Encephalomyopathies

Archives of Neurology, 1993
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes.
S, DiMauro, C T, Moraes
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Mitochondrial encephalomyopathy

2023
Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a surprisingly frequent cause of central and peripheral nervous system pathology. Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by
Ng YS, McFarland R
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Mitochondrial Encephalomyopathies

Annals of the New York Academy of Sciences, 2004
Abstract: Therapy for mitochondrial diseases is woefully inadequate. How‐ever, lack of cure does not equate with lack of treatment. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocrine dysfunction, and ...
DiMauro S., Mancuso M., Naini A.
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Mitochondrial Encephalomyopathies☆

2009
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. We owe to Luft et al. (1962) the first description of this type of diseases.
A, Lombes, E, Bonilla, S, Dimauro
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Mitochondrial encephalomyopathy

Neuropathology, 2000
Mitochondrial encephalomyopathy is a disease based on multisystemic mitochondrial dysfunction. Pathologic, biochemical and molecular genetic approaches to the disease have revealed the complex features of the phenotype and its relationship to the genotype.
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