Renal Phenotype in Mitochondrial Diseases : A Multicenter Study

Autor: Parasyri, M. (Maria), Brandström, P. (Per), Uusimaa, J. (Johanna), Ostergaard, E. (Elsebet), Hikmat, O. (Omar), Isohanni, P. (Pirjo), Naess, K. (Karin), de Coo, I. F. (I. F. M.), Osorio, A. N. (Andrés Nascimento), Nuutinen, M. (Matti), Lindberg, C. (Christopher), Bindoff, L. A. (Laurence A.), Tulinius, M. (Már), Darin, N. (Niklas), Sofou, K. (Kalliopi)

Publikováno v: Kidney Diseases
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Kidney Dis (Basel)
Kidney Diseases, 8(2). Karger
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, I F M, Nascimento Osorio, A, Nuutinen, M, Lindberg, C, Bindoff, L A, Tulinius, M, Darin, N & Sofou, K 2022, ' Renal Phenotype in Mitochondrial Diseases : A Multicenter Study ', Kidney diseases, vol. 8, no. 2 . https://doi.org/10.1159/000521148

Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf62cea4dd14b8070a3ded438b112356
http://hdl.handle.net/10138/353736

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus

Autor: De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ, Mancuso M

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ae7d68b9ab3fe99df474ad6e41b7df4f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17459

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Autor: Wilson, I. J., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., Samuels, D. C., Wonnapinij, P., Zeviani, M., Taylor, R. W., Smeets, H. J. M., Horvath, R., Chinnery, P. F.

Publikováno v: Human Molecular Genetics, 25(5), 1031-1041. Oxford University Press
Human Molecular Genetics

With a combined carrier frequency of 1:200, heteroplasmic mitochondrial DNA (mtDNA) mutations cause human disease in ~1:5000 of the population. Rapid shifts in the level of heteroplasmy seen within a single generation contribute to the wide range in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a900f8cadb7addbd7dce46a769cbfe05
https://cris.maastrichtuniversity.nl/en/publications/9c6538d5-8708-433a-b304-3379d479f843

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Ataxia in mitochondrial disorders

Autor: Zeviani, M., Simonati, A., Bindoff, L. A.

Publikováno v: Handbook of clinical neurology. 103

Mitochondria are subcellular organelles whose major function is to generate energy by coupling through oxidation of nutrient substrates with ATP synthesis, via ADP phosphorylation. This process, known as oxidative phosphorylation, is carried out by t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ad58e34b1801b6ec9a9bdf8fea5136d0
https://pubmed.ncbi.nlm.nih.gov/21827900