Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

Autor: Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou

Publikováno v: Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)

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://doaj.org/article/3ee2e812910448329c59438092ef3013

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

Autor: Jan A.M. Smeitink, I.F.M. de Coo, Laura Sánchez-Caballero, Richard J. Rodenburg, Leo G.J. Nijtmans, Fabian Baertling, M.A.M. van den Brand, Virginia Wong, Cheuk-Wing Fung, Debby M.E.I. Hellebrekers, Sophelia H. S. Chan

Publikováno v: Clinical Genetics. 93:111-118

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=doi_________::b930656822b9f7c9b35ea1f127b19744
https://doi.org/10.1111/cge.13089

A clinical diagnostic algorithm for early onset cerebellar ataxia

Autor: Sara Nuovo, Ginevra Zanni, Dana Craiu, Nina Barišić, Rajesh Kumar, J. Gburek, R. Brandsma, I.F.M. de Coo, V. Brankovic-Sreckovic, Bwee Tien Poll-The, Corien C. Verschuuren-Bemelmans, Enrico Bertini, Lubov Blumkin, Coriene E. Catsman-Berrevoets, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Gessica Vasco, Colin R. Kennedy, Enza Maria Valente, Alfons Macaya, Oebele F. Brouwer, Maja Steinlin, M. Mirabelli-Badenier, Andrea H. Németh, Eugen Boltshauser, T. J. de Koning, D. Amrom, Tally Lerman-Sagie, Marina A. J. Tijssen, Katrin Bürk, Deborah A Sival, Matthis Synofzik, Alessia Micalizzi, Peter Baxter

Publikováno v: European Journal of Paediatric Neurology, 23, 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. W.B. Saunders
European journal of paediatric neurology : EJPN, 23(5), 692-706. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 23(5), 692-706. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 23, 54, pp. 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. ELSEVIER SCI LTD
European journal of paediatric neurology 23(5), 692-706 (2019). doi:10.1016/j.ejpn.2019.08.004

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e086c367a7dfacf1d697f1d96ed0c
http://hdl.handle.net/11573/1540246

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Forty-five years of Duchenne muscular dystrophy in The Netherlands

Autor: Jan J.G.M. Verschuuren, B.H.A. Wokke, M. E. Van Der Tol, I.J.M. de Groot, Peter J. Wijkstra, Chiara S. M. Straathof, Erik H. Niks, Marianne Zijnen, M.E.B. Rijlaarsdam, Nicole A. M. Cobben, J.C. van den Bergen, A. M. C. Horemans, Johanna M. Fock, Elizabeth Vroom, H.B. Ginjaar, I.F.M. de Coo, R.F. Pangalila, A. J. van Essen, Mike J. Kampelmacher

Publikováno v: Journal of Neuromuscular Diseases, 1(1), 99-109
Journal of Neuromuscular Diseases, 1, pp. 99-109
Journal of Neuromuscular Diseases, 1, 99-109

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ven

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331d1e969a62b10a76a13b94c09ab98a
https://research.rug.nl/en/publications/c217de5d-ae4e-480d-8672-e40a58ac5751