Showing 1–13 of 13 results
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Research | | Open
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice
- Tim L. Emmerzaal
- , Graeme Preston
- , Bram Geenen
- , Vivienne Verweij
- , Maximilian Wiesmann
- , Elisavet Vasileiou
- , Femke Grüter
- , Corné de Groot
- , Jeroen Schoorl
- , Renske de Veer
- , Monica Roelofs
- , Martijn Arts
- , Yara Hendriksen
- , Eva Klimars
- , Taraka R. Donti
- , Brett H. Graham
- , Eva Morava
- , Richard J. Rodenburg
- & Tamas Kozicz
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Research | | Open
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
- Marisa W. Friederich
- , Sharita Timal
- , Christopher A. Powell
- , Cristina Dallabona
- , Alina Kurolap
- , Sara Palacios-Zambrano
- , Drago Bratkovic
- , Terry G. J. Derks
- , David Bick
- , Katelijne Bouman
- , Kathryn C. Chatfield
- , Nadine Damouny-Naoum
- , Megan K. Dishop
- , Tzipora C. Falik-Zaccai
- , Fuad Fares
- , Ayalla Fedida
- , Ileana Ferrero
- , Renata C. Gallagher
- , Rafael Garesse
- , Micol Gilberti
- , Cristina González
- , Katherine Gowan
- , Clair Habib
- , Rebecca K. Halligan
- , Limor Kalfon
- , Kaz Knight
- , Dirk Lefeber
- , Laura Mamblona
- , Hanna Mandel
- , Adi Mory
- , John Ottoson
- , Tamar Paperna
- , Ger J. M. Pruijn
- , Pedro F. Rebelo-Guiomar
- , Ann Saada
- , Bruno Sainz Jr.
- , Hayley Salvemini
- , Mirthe H. Schoots
- , Jan A. Smeitink
- , Maciej J. Szukszto
- , Hendrik J. ter Horst
- , Frans van den Brandt
- , Francjan J. van Spronsen
- , Joris A. Veltman
- , Eric Wartchow
- , Liesbeth T. Wintjes
- , Yaniv Zohar
- , Miguel A. Fernández-Moreno
- , Hagit N. Baris
- , Claudia Donnini
- , Michal Minczuk
- , Richard J. Rodenburg
- & Johan L. K. Van Hove
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Research | | Open
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
- Sanna Puusepp
- , Reka Kovacs-Nagy
- , Bader Alhaddad
- , Matthias Braunisch
- , Georg F. Hoffmann
- , Urania Kotzaeridou
- , Lucia Lichvarova
- , Mailis Liiv
- , Christine Makowski
- , Merle Mandel
- , Thomas Meitinger
- , Sander Pajusalu
- , Richard J. Rodenburg
- , Dzhamilja Safiulina
- , Tim M. Strom
- , Inga Talvik
- , Annika Vaarmann
- , Callum Wilson
- , Allen Kaasik
- , Tobias B. Haack
- & Katrin Õunap
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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
- Arjan Pol
- , G. Herma Renkema
- , Albert Tangerman
- , Edwin G. Winkel
- , Udo F. Engelke
- , Arjan P. M. de Brouwer
- , Kent C. Lloyd
- , Renee S. Araiza
- , Lambert van den Heuvel
- , Heymut Omran
- , Heike Olbrich
- , Marijn Oude Elberink
- , Christian Gilissen
- , Richard J. Rodenburg
- , Jörn Oliver Sass
- , K. Otfried Schwab
- , Hendrik Schäfer
- , Hanka Venselaar
- , J. Silvia Sequeira
- , Huub J. M. Op den Camp
- & Ron A. Wevers
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Research | | Open
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
- Eric J. R. Jansen
- , Sharita Timal
- , Margret Ryan
- , Angel Ashikov
- , Monique van Scherpenzeel
- , Laurie A. Graham
- , Hanna Mandel
- , Alexander Hoischen
- , Theodore C. Iancu
- , Kimiyo Raymond
- , Gerry Steenbergen
- , Christian Gilissen
- , Karin Huijben
- , Nick H. M. van Bakel
- , Yusuke Maeda
- , Richard J. Rodenburg
- , Maciej Adamowicz
- , Ellen Crushell
- , Hans Koenen
- , Darius Adams
- , Julia Vodopiutz
- , Susanne Greber-Platzer
- , Thomas Müller
- , Gregor Dueckers
- , Eva Morava
- , Jolanta Sykut-Cegielska
- , Gerard J. M. Martens
- , Ron A. Wevers
- , Tim Niehues
- , Martijn A. Huynen
- , Joris A. Veltman
- , Tom H. Stevens
- & Dirk J. Lefeber
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
- Saskia B Wortmann
- , Frédéric M Vaz
- , Thatjana Gardeitchik
- , Lisenka E L M Vissers
- , G Herma Renkema
- , Janneke H M Schuurs-Hoeijmakers
- , Wim Kulik
- , Martin Lammens
- , Christin Christin
- , Leo A J Kluijtmans
- , Richard J Rodenburg
- , Leo G J Nijtmans
- , Anne Grünewald
- , Christine Klein
- , Joachim M Gerhold
- , Tamas Kozicz
- , Peter M van Hasselt
- , Magdalena Harakalova
- , Wigard Kloosterman
- , Ivo Barić
- , Ewa Pronicka
- , Sema Kalkan Ucar
- , Karin Naess
- , Kapil K Singhal
- , Zita Krumina
- , Christian Gilissen
- , Hans van Bokhoven
- , Joris A Veltman
- , Jan A M Smeitink
- , Dirk J Lefeber
- , Johannes N Spelbrink
- , Ron A Wevers
- , Eva Morava
- & Arjan P M de Brouwer
