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个人简介
My main research topic is the functional characterization of novel defects of the mitochondrial energy generating system. Nowadays most new genetic defects are identified by exome sequencing and often require further validation. For these validation studies, patients’ fibroblasts and myoblast cell lines are an important tool. The functioning of the mitochondrial ATP production machinery in these cells is examined by ATP production, pyruvate oxidation and oxygen consumption rate measurements, respiratory chain enzyme activity assays, immunohistochemical and Western blot analysis of various mitochondrial enzymes. In addition, a number array of additional tests and technology platforms are available in our center, including a proteomics/metabolomics facility and a microscopy facility. The results of these studies are essential for establishing a diagnosis in patients with new genetic defects and provide new insights in the ethiology of mitochondrial disorders.
研究兴趣
论文共 347 篇作者统计合作学者相似作者
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Taolin Yuan,Surinder Kumar,Mary E. Skinner, Ryan Victor-Joseph, Majd Abuaita,Jaap Keijer, Jessica Zhang,Thaddeus J. Kunkel,Yanghan Liu,Elyse M. Petrunak,Thomas L. Saunders,Andrew P. Lieberman,Jeanne A. Stuckey,Nouri Neamati,Fathiya Al - Murshedi,Majid Alfadhel,Johannes N. Spelbrink,Richard Rodenburg,Vincent C. J. de Boer,David B. Lombard
iScienceno. 6 (2024): 109991-109991
Cansu de Muijnck, Mary J. van Schooneveld,Astrid S. Plomp,Richard J. Rodenburg,Maria M. van Genderen,Camiel J.F. Boon
American journal of ophthalmology Case reports (2024): 102070-102070
Jasmijn B. Miltenburg, Marnix Gorissen, Inge van Outersterp, Iris Versteeg, Alex Nowak,Richard J. Rodenburg,Antonius E. van Herwaarden,Andre J. Olthaar,Benno Kusters,Catleen Conrad,Henri J. L. M. Timmers,Margo Dona
Josine M. de Winter,Joery P. Molenaar,Michaela Yuen,Robbert van der Pijl,Shengyi Shen,Stefan Conijn,Martijn van de Locht, Menne Willigenburg,Sylvia J. P. Bogaards,Esmee S. B. van Kleef,Saskia Lassche,Malin Persson,Dilson E. Rassier,Tamar E. Sztal,Avnika A. Ruparelia,Viola Oorschot,Georg Ramm,Thomas E. Hall,Zherui Xiong,Christopher N. Johnson,Frank Li,Balazs Kiss,Noelia Lozano-Vidal,Reinier A. Boon,Manuela Marabita,Leonardo Nogara,Bert Blaauw,Richard J. Rodenburg, Benno Kuesters,Jonne Doorduin,Alan H. Beggs,Henk Granzier,Ken Campbell,Weikang Ma,Thomas Irving,Edoardo Malfatti,Norma B. Romero,Robert J. Bryson-Richardson,Baziel G. M. van Engelen,Nicol C. Voermans,Coen A. C. Ottenheijm
JOURNAL OF CLINICAL INVESTIGATIONno. 3 (2024)
Neurologyno. 5 (2024): e209164-e209164
Firas Abu Hanna,Yoav Zehavi,Eran Cohen-Barak,Morad Khayat, Nasim Warwar, Roni Shreter,Richard J. Rodenburg,Ronen Spiegel
Orphanet Journal of Rare Diseasesno. 1 (2024): 1-11
Serena Galosi,Cecilia Mancini, Anna Commone,Paolo Calligari,Viviana Caputo,Francesca Nardecchia,Claudia Carducci, Lambertus P. van den Heuvel,Simone Pizzi,Alessandro Bruselles,Marcello Niceta,Simone Martinelli,Richard J. Rodenburg,Marco Tartaglia,Vincenzo Leuzzi
MOVEMENT DISORDERSno. 7 (2024): 1225-1231
Abderrahim Marouane,Kornelia Neveling,A. Chantal Deden,Simone van den Heuvel,Dimitra Zafeiropoulou,Steven Castelein,Frank van de Veerdonk,David A. Koolen,Annet Simons,Richard Rodenburg,Dineke Westra,Arjen R. Mensenkamp,Nicole de Leeuw,Marjolijn Ligtenberg, Rene Matthijsse,Rolph Pfundt,Erik Jan Kamsteeg,Han G. Brunner,Christian Gilissen,Ilse Feenstra,Willem P. de Boode,Helger G. Yntema,Wendy A. G. van Zelst-Stams,Marcel Nelen,Lisenka E. L. M. Vissers
FRONTIERS IN GENETICS (2024)
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作者统计
#Papers: 345
#Citation: 13089
H-Index: 63
G-Index: 101
Sociability: 8
Diversity: 0
Activity: 2
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