Results 41 to 50 of about 6,184 (217)

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia [PDF]

, 2017
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease.
Hadjivassiliou, M., Hoggard, N., Ng, Y.S., Powell, H., Taylor, R.W., Turnbull, D.M.   +5 more
core   +1 more source

Flux control of cytochrome c oxidase in human skeletal muscle [PDF]

, 2000
In the present work, by titrating cytochrome c oxidase (COX) with the specific inhibitor KCN, the flux control coefficient and the metabolic reserve capacity of COX have been determined in human saponin-permeabilized muscle fibers. In the presence of the
Attardi, Giuseppe, Elger, Christian E., Kudin, Alexei, Kunz, Wolfram S., Vielhaber, Stefan, Villani, Gaetano   +5 more
core   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +2 more sources

Clinical and magnetic resonance imaging features of idiopathic oculomotor neuropathy in 14 dogs: Canine Idiopathic Oculomotor Neuropathy [PDF]

, 2017
Ophthalmoplegia/ophthalmoparesis (internal, external, or both) has been reported in dogs secondary to neoplasia affecting the oculomotor nerve and is usually given a poor prognosis.
Beltran, E, Dennis, R, Freeman, C, Hartley, C, Tetas Pont, R   +4 more
core   +2 more sources

Outcome of Ptosis Surgery in Patients with Chronic Progressive External Ophthalmoplegia

Türk Oftalmoloji Dergisi, 2014
Objectives: To evaluate the clinical features and the outcome of ptosis surgery in patients with chronic progressive external ophthalmoplegia (CPEO). Materials and Methods: The demographic features, surgical approaches, anatomic and functional outcomes,
Şeyda Uğurlu, Sevinç Atik, Mehmet Reşit Işık, Gülden Diniz   +3 more
doaj   +1 more source

Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia [PDF]

, 1990
The fuel preference of human muscle mitochondria has been given. Substrates which are oxidized with low velocity cannot be used to detect defects in oxidative phosphorylation.
Agsteribbe, E. (E.), Busch, H.F.M. (Herman), Hoogenraad, T.U. (T.), Jennekens, F.G.I. (Frans G.), Linge, B. (Bert) van, Luyt-Houwen, I.E.M. (I. E M), Ross, J.D. (John), Ruiters, M.H.J. (M. H J), Scholte, H.R. (Hans), Verduin, M.H.M. (M. H M)   +9 more
core   +5 more sources

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]

, 2015
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria, Brugnoli, Roberto, Callovini, G, Dacquino, Claudia, Danese, E, DEL CASALE, Antonio, Ferracuti, Stefano, Ferri, Vr, Gentile, Giovanna, Girardi, Paolo, Janiri, D, Kotzalidis, Georgios, Manfredi, G, Raccah, Rn, Rapinesi, Chiara, Scatena, P, Serata, D, Simmaco, Maurizio, Zangen, A   +18 more
core   +1 more source

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study [PDF]

, 2010
Background It has been postulated that eye movement disorders in chronic progressive external ophthalmoplegia (CPEO) have a neurological as well as a myopathic component to them.
Chinnery, P. F., Davidson, A. W., Griffiths, P.G., Ritchie, A. E.   +3 more
core   +1 more source