Live-Imaging Readouts and Cell Models for Phenotypic Profiling of Mitochondrial Function

by Eligio F. Iannetti, Eligio F. Iannetti, Alessandro Prigione, Jan A. M. Smeitink, Jan A. M. Smeitink, Werner J. H. Koopman, Julien Beyrath, Herma Renkema
Published 2019-03-01

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array

by Sarah Foriel, Sarah Foriel, G. Herma Renkema, G. Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J. Rodenburg, Jan A. M. Smeitink, Jan A. M. Smeitink, Julien Beyrath, Annette Schenck
Published 2019-03-01

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

by Sarah Foriel, Julien Beyrath, Ilse Eidhof, Richard J. Rodenburg, Annette Schenck, Jan A. M. Smeitink
Published 2018-03-01

Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes.

by Lionel Blanchet, Sander Grefte, Jan A M Smeitink, Peter H G M Willems, Werner J H Koopman
Published 2014-01-01

Psychological functioning in children suspected for mitochondrial disease: the need for care

by Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink, Christianne M. Verhaak
Published 2020-03-01

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

by Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink
Published 2000-08-01

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

by Hans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, Johannes N Spelbrink, Richard J Rodenburg, Lambert P van den Heuvel, Alain J van Gool, Jolein Gloerich, Jan A M Smeitink, Leo G Nijtmans
Published 2013-01-01

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

by Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Published 2020-09-01

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

by Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
Published 2021-08-01