Results 161 to 170 of about 8,951 (213)

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies [PDF]

open access: yes, 2012
Arenas, Joaquín   +11 more
core   +2 more sources

Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease [PDF]

open access: yes, 2015
Ahmed, Riffat   +25 more
core   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy

open access: yesArquivos de Neuro-Psiquiatria, 2012
Camila Pupe   +7 more
doaj  

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   +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

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