Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Eleni Mavraki"'
Autor:
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James Polke, Robert W. Taylor, Carl Fratter
Publikováno v:
European Journal of Human Genetics. 31:148-163
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45108d4849e41300ae18db25c79e3e42
https://doi.org/10.1038/s41431-022-01249-w
https://doi.org/10.1038/s41431-022-01249-w
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb270d3c6a616f6c97caebc771a415a
https://pubmed.ncbi.nlm.nih.gov/36326949
https://pubmed.ncbi.nlm.nih.gov/36326949
Autor:
Aggeliki Fotiadou, Dimitrios Tsiptsios, Eleni Mavraki, Evlampia A. Psatha, Ioannis Iliopoulos
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed1654503a88e4b062b6e1712257c22
https://pubmed.ncbi.nlm.nih.gov/35286541
https://pubmed.ncbi.nlm.nih.gov/35286541
Autor:
Maria Samakouri, Georgios Mikellides, Christina Angelopoulou, Eleni Mavraki, Aikaterini Arvaniti, Olympia Evagorou
Publikováno v:
The Journal of nervous and mental disease. 209(12)
Frequently, patients with multiple sclerosis (MS) experience comorbid psychiatric symptoms. Mental disorders primarily occur simultaneously with or after an MS diagnosis; however, the probability of them being the initial manifestation of the disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9219c99a6c7ebe2b44e9a0b8b33a1a9a
https://pubmed.ncbi.nlm.nih.gov/34846357
https://pubmed.ncbi.nlm.nih.gov/34846357
Autor:
Vasiliki Lampropoulou, Charalampos Papagoras, Juan I. Aróstegui, Savas Deftereos, Konstantinos Ritis, Panagiotis Skendros, Akrivi Chrysanthopoulou, Eleni Mavraki
Publikováno v:
Clinical Immunology. 227:108750
The co-existence of an autoinflammatory syndrome with a demyelinating disorder is a very rare occurrence raising the question whether there is a pathophysiological connection between them. We describe the case of a man with symptoms of cryopyrin-asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7c9c8c43e0867c623a44629afc881a2
https://doi.org/10.1016/j.clim.2021.108750
https://doi.org/10.1016/j.clim.2021.108750
Autor:
Alexander Fletcher, E. Marie Freel, Edward S. Tobias, Victoria Murday, H. Rosemarie Davidson, Nicola Bradshaw, Phey M. Yeap, Eleni Mavraki, A. Cooke, Colin Perry, Robert S. Lindsay
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 96:E2009-E2013
Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss of the maternal copy of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63dde068cc3db5bad698810c020daa5e
https://doi.org/10.1210/jc.2011-1244
https://doi.org/10.1210/jc.2011-1244
Autor:
Evagelia Dimitrakoudi, Charitomeni Piperidou, Dimitrios Vassilopoulos, Eleni Mavraki, Grigorios Trypsianis, Nikolaos Triantafyllou, Aikaterini Terzoudi, Konstantinos Vadikolias, Ioannis Heliopoulos, Anna Karlovasitou, Stavros Balogiannis
Publikováno v:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 17(7)
The aim was to study the influence of patients’ age, frequency and type of seizures, disease duration, number of AEDs and use of benzodiazepines on the quality of life of patients with epilepsy. We consecutively identified 223 patients with epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e07616c5e49568d29616761651df3bc0
https://pubmed.ncbi.nlm.nih.gov/18663600
https://pubmed.ncbi.nlm.nih.gov/18663600
Autor:
Nicola Bradshaw, Marie E. Freel, Rosemarie Davidson, Victoria Murday, Edward S. Tobias, Eleni Mavraki, Robert Lindsay, Colin Perry, Alexander Fletcher, A. Cooke, Phey M. Yeap
Publikováno v:
Cancer Research. 72:3673-3673
In SDHD mutation families, paragangliomas and pheochromocytomas usually occur only after paternal transmission of the mutation. This important but unexplained parent-of-origin effect is not due to imprinting of SDHD itself, as was initially suspected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6406e36918a41bc895713156409c385f
https://doi.org/10.1158/1538-7445.am2012-3673
https://doi.org/10.1158/1538-7445.am2012-3673