Results 31 to 40 of about 9,115 (202)

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

Nonstandard cases of blepharoptosis in patients with subcutaneous dirofilariasis, chronic progressive external ophthalmoplegia, and blepharochalyasis of allergic origin (clinical observations)

Russian Pediatric Ophthalmology, 2023
The medico-social significance of upper eyelid omission is associated, on the one hand, with a relatively high frequency of occurrence (up to 32% among ophthalmic patients) and, on the other hand, with a significant decrease in the quality of life of ...
I. Filatova, Julia P. Kondratieva, S. A. Shemetov, M. S. Trefilova   +3 more
semanticscholar   +1 more source

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

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

Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Journal of genetic medicine, 2021
Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive.
H. Algahtani, B. Shirah, Khalid Alsaggaf, M. Al-Qahtani, A. Abdulkareem, M. Naseer, A. Abuzinadah   +6 more
semanticscholar   +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

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +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

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease [PDF]

, 2016
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity.
Costello, H, Fratter, C, Hanna, MG, Harding, BN, Holton, JL, Jacques, TS, Jaunmuktane, Z, Pitceathly, RD, Rahman, S, Rajakulendran, S, Sweeney, MG, Taanman, JW, Woodward, CE   +12 more
core   +1 more source

Gaze-holding nystagmus in chronic progressive external ophthalmoplegia: a case report

Research in Vestibular Science
We report a patient with chronic progressive external ophthalmoplegia (CPEO) who developed bilateral horizontal gaze-holding nystagmus, a previously unreported phenomenon.
Eugene Jung, Seo-Young Choi, J. Choi, Kwang-Dong Choi   +3 more
semanticscholar   +1 more source