Results 41 to 50 of about 13,407 (248)
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 +5 more
core +1 more source
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. [PDF]
, 2013 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP.
Bain, MD +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. +2 more
core +2 more sources
Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]
, 2016 Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria +7 more
core +11 more sources
Journal of Biological Research, 2022 The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of
Agostino Berio +3 more
doaj +1 more source
Atypical Miller Fisher Syndrome with Anisocoria and Rapidly Fluctuating Pupillary Diameter
Case Reports in Neurological Medicine, 2015 Miller Fisher syndrome is a variant of Guillain-Barre syndrome characterized by the classic triad of ophthalmoplegia, ataxia, and areflexia. Pupillary involvement is common in MFS and has been reported in 35–42% of MFS patients.
Garima Gupta, Antonio Liu
doaj +1 more source
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. +5 more
core +1 more source
Acute Isolated Bilateral Mydriasis: Case Reports and Review of the Literature
Case Reports in Neurology, 2014 Isolated bilateral internal ophthalmoplegia is a rare and problematic condition affecting activities of daily living. Herein, we describe the cases of 2 patients with postinfectious isolated bilateral internal ophthalmoplegia, i.e., mydriasis without ...
Hiromasa Sato +2 more
doaj +1 more source
Biotin-Responsive Ophthalmoplegia / Dystonia
Pediatric Neurology Briefs, 2013 A 10-year-old girl with a 4-month history of abnormal gait and dysarthria had bilateral external ophthalmoplegia, dystonia, and altered mental status.
J Gordon Millichap
doaj +1 more source
Extra-ocular muscle MRI in genetically-defined mitochondrial disease [PDF]
, 2015 Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether
Cathy Woodward +12 more
core +1 more source