Results 141 to 150 of about 376,481 (188)

Tachyduodenia in mitochondrial neurogastrointestinal encephalomyopathy

Neurogastroenterology and Motility, 2011
AbstractIn a 38‐year‐old male patient diagnosed with mitochondrial neurogastrointestinal encephalomyopathy an abnormally high duodenal contraction frequency of 20 per minute was found to be present. It is speculated that this tachyduodenia is caused by a metabolic effect on Cajal cells.
Scheffer, R. C. H., Smout, A. J. P. M.
exaly   +4 more sources

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy [PDF]

Brain, 2015
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency.
Père Barba, Isabel Illa, Massimiliano Filosto   +2 more
exaly   +7 more sources

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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
  +9 more sources

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
  +6 more sources

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
openaire   +3 more sources

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.
openaire   +4 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Autophagy and Mitochondrial Encephalomyopathies

2020
Mitochondrial encephalomyopathies are a group of disorders affecting skeletal muscles and brain. Although the symptoms vary among these disorders, mitochondrial DNA mutation or loss is the common characteristic. The abnormality of mitochondrial genome usually causes the dysfunction of mitochondrial respiratory and even mitochondrial damage.
Xiangnan, Zhang, Yanrong, Zheng, Zhong, Chen   +2 more
openaire   +2 more sources

Mitochondrial encephalomyopathies: an update

Neuromuscular Disorders, 2005
A genetic classification of the mitochondrial encephalomyopathies includes disorders due to defects of mitochondrial DNA (mtDNA) and disorders due to defects of nuclear DNA (nDNA). Recent progress in mtDNA-related diseases includes: (i) new pathogenic mutations in protein-coding genes, especially those encoding subunits of complex I (ND genes); (ii ...
Salvatore, DiMauro, Michio, Hirano
openaire   +2 more sources