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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

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Evaluation of the new ICHD-III beta cluster headache criteria.

Autor: de Coo, I. F.¹ g.m.terwindt@lumc.nl, Wilbrink, L. A.¹, Haan, J.^1,2, Ferrari, M. D.¹, Terwindt, G. M.¹

Publikováno v: Cephalalgia. May2016, Vol. 36 Issue 6, p547-551. 5p. 1 Diagram, 2 Charts, 1 Graph.

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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

Autor: Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T., Nijtmans, L. G. J.

Publikováno v: Clinical Genetics, 93, 111-118
Clinical Genetics, 93, 1, pp. 111-118
Clinical Genetics, 93(1), 111-118. Wiley

Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::79b6d4692fcb1c35ccf2b78e60c18aa4
http://hdl.handle.net/2066/190456

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Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

Autor: Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder-den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M., Gerards, M.

Publikováno v: Clinical Genetics, 91(1), 121-125. Wiley

The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::a1feb253fde114697fc0bbbcbced541e
https://cris.maastrichtuniversity.nl/en/publications/5e0605f3-894f-4ad4-bebf-962ce1980e7c

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Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Autor: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

Publikováno v: Brain, 138, 2847. Oxford University Press
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622b286198db315b48ed87569b5cafb2
https://dspace.library.uu.nl/handle/1874/332591

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Williams syndrome:new insights into genetic etiology, pathogenesis and clinical aspects

Autor: van Hagen, J M, Govaerts, L C, de Coo, I F, Gille, J J, Nieuwint, A W, Madan, K

Publikováno v: van Hagen, J M, Govaerts, L C, de Coo, I F, Gille, J J, Nieuwint, A W & Madan, K 2001, ' Williams-syndroom : nieuwe inzichten in genetische etiologie, pathogenese en kliniek ', Nederlands Tijdschrift voor Geneeskunde, vol. 145, no. 9, pp. 396-400 .

Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::ae3aab643766b9f2aa2cc77c617de47a
https://research.vumc.nl/en/publications/a3981ebd-2094-43a7-a4df-45fdf5f5ef5d

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