Mitochondrial disease
Ophthalmoplegia in Mitochondrial Disease
... mitochondrial disease. Materials and Methods: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and Janu- ary 2016, 21 patients with ophthalmoplegia ...
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Diagnostic odyssey of patients with mitochondrial disease
... with mitochondrial disease, researchers, and clinicians that mitochondrial disease di- agnosis is difficult, confusing, and ...with mitochondrial disease, through Patient Advocacy ...
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Newcastle Mitochondrial Disease Guidelines
... Multisystem disease: neuropathy, nephropathy and cardiomyopathy may occur due to mitochondrial disease alone, but it is important that this is not assumed to be the case and those treatable causes ...
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Development and applications of nanoparticles in mitochondrial disease
... the mitochondrial thiol/disulfide redox status and completely abolished the BSO-induced change in mitochondrial morphology without having any effect on the BSO-induced decrease in intracellular GSH ...a ...
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Newcastle Mitochondrial Disease Guidelines
... particular seizures and/or focal deficits is highly variable. Even in the absence of a focal deficit there may be focal EEG and MRI abnormalities and resultant neuronal loss with step-wise reduction in cerebral function. ...
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Rapamycin enhances survival in a Drosophila model of mitochondrial disease
... A Drosophila model of LS has been recently described in which the Complex I subunit ND2 is compromised by a 9-nucleotide deletion [19]. These flies exhibit decreased Complex I assembly and function, heat sensitivity, ...
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Lennox Gastaut Syndrome in Mitochondrial Disease
... table seizures among children with early age at first seizure. Several studies have shown that the younger the age, the worse the prognosis. When mitochondrial disease is diag- nosed at an early age, it can ...
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Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease
... of mitochondrial disease result- ing from the secondary accumulation of multiple mtDNA deletions and that the phenotypic spec- trum in adults is relatively ...
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Mitochondrial disease: an uncommon but important cause of diabetes mellitus
... in mitochondrial disease has not been studied and is the subject of a current trial ...with mitochondrial disease may avoid transmitting the defect by utilizing ‘three parent IVF’ with the ...
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Hair and Skin Disorders as Signs of Mitochondrial Disease
... of mitochondrial disease but have never been sys- tematically studied in this ...of mitochondrial disorders led us to group together and compare skin ...of mitochondrial disease when ...
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Renal manifestations of genetic mitochondrial disease
... tions in tissues (eg, nervous and muscle tissues) more heavily reliant on oxidative phosphorylation for energy metabolism and typical of mitochondrial disease suggests that defects in oxidative ...
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Mitochondrial Disease: A Practical Approach for Primary Care Physicians
... of mitochondrial disease in the infant and young child complicates its clinical ...diagnosis. Mitochondrial disease is not a single entity but, rather, a heterogeneous group of disorders ...
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Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease
... of mitochondrial disease were referred for MR imaging and MR spectroscopy during 1990–1994 and ...3) mitochondrial disease based on the totality of clinical and laboratory ...known ...
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Side alternating vibration training in patients with mitochondrial disease: a pilot study
... in mitochondrial disease to mitigate func- tional declines in muscular ...including mitochondrial disease ...with mitochondrial disease has also been well established [21], with ...
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Patient and family trajectories of mitochondrial disease: diversity, uncertainty and genetic risk
... Mitochondrial disease is a progressive, degenerative ...of disease progression, surveilling them- selves and others for signs of ...of disease and making comparisons between oneself and others ...
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Hierarchical Active Learning Application to Mitochondrial Disease Protein Dataset
... This work applies a new approach in the active learning setting, termed active over-labeling, to the mitochondrial disease protein dataset [ 1 ]. The approach uses a certain proportion of the purchase ...
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Myocardial Layer Specific Strain Analysis in Children with Mitochondrial Disease
... MD, mitochondrial disease; LV, left ventricle; EF, ejection fraction; FS, frac- tional shortening; IVSTd, interventricular septal thickness, diastole; IVSTs, in- terventricular septal thickness, systole; ...
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Modulating mitophagy in mitochondrial disease
... [77] Beal, M.F.; Oakes, D.; Shoulson, I.; Henchcliffe, C.; Galpern, W.R.; Haas, R.; Juncos, J.L.; Nutt, J.G.; Voss, T.S.; Ravina, B.; Shults, C.M.; Helles, K.; Snively, V.; Lew, M.F.; Griebner, B.; Watts, A.; Gao, S.; ...
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The Dictyostelium model for mitochondrial biology and disease
... of mitochondrial disease was created via the mutation of the mitochondrially encoded large ribosomal RNA subunit gene, rnl (Wilczynska et ...heteroplasmic mitochondrial mutant strain with aberrant ...
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Silec: A New Tool to Study Mitochondrial and Metabolic Disease
... Coenzyme A (CoA) and CoA thioesters are central to numerous metabolic pathways. However, the inability to synthesize isotopically labeled CoA has limited analytical methods to measure these compounds. In this thesis, we ...
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