The Dimensions of Primary Mitochondrial Disorders

by Lea D. Schlieben, Lea D. Schlieben, Holger Prokisch, Holger Prokisch
Published 2020-11-01

ncRNAs: New Players in Mitochondrial Health and Disease?

by Mirjana Gusic, Mirjana Gusic, Mirjana Gusic, Holger Prokisch, Holger Prokisch
Published 2020-02-01

Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

by Mirjana Gusic, Mirjana Gusic, Mirjana Gusic, Holger Prokisch, Holger Prokisch
Published 2020-03-01

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

by Sarah L. Stenton, Holger Prokisch
Published 2020-06-01

Mitochondrial replacement approaches: challenges for clinical implementation

by Thomas Klopstock, Barbara Klopstock, Holger Prokisch
Published 2016-11-01

Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency

by Ling Zhou, Jie Deng, Sarah L. Stenton, Sarah L. Stenton, Ji Zhou, Hua Li, Chunhong Chen, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2020-12-01

How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

by Lea D. Schlieben, Lea D. Schlieben, Holger Prokisch, Holger Prokisch, Vicente A. Yépez, Vicente A. Yépez
Published 2021-06-01

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

by Rui Ban, Rui Ban, Zhimei Liu, Masaru Shimura, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2021-07-01

Identification of a Novel Variant in MT-CO3 Causing MELAS

by Manting Xu, Manting Xu, Manting Xu, Robert Kopajtich, Robert Kopajtich, Matthias Elstner, Zhaoxia Wang, Zhimei Liu, Junling Wang, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2021-05-01

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

by Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer
Published 2020-12-01

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>

by Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh
Published 2021-01-01

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

by Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch
Published 2014-01-01

Assessing systems properties of yeast mitochondria through an interaction map of the organelle.

by Fabiana Perocchi, Lars J Jensen, Julien Gagneur, Uwe Ahting, Christian von Mering, Peer Bork, Holger Prokisch, Lars M Steinmetz
Published 2006-10-01

Detection of aberrant splicing events in RNA-seq data using FRASER

by Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
Published 2021-01-01

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

by Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
Published 2020-11-01

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

by Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
Published 2020-04-01

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

by Vicente A Yépez, Laura S Kremer, Arcangela Iuso, Mirjana Gusic, Robert Kopajtich, Eliška Koňaříková, Agnieszka Nadel, Leonhard Wachutka, Holger Prokisch, Julien Gagneur
Published 2018-01-01

Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.

by Antònia Flaquer, Susanne Rospleszcz, Eva Reischl, Sonja Zeilinger, Holger Prokisch, Thomas Meitinger, Christa Meisinger, Annette Peters, Melanie Waldenberger, Harald Grallert, Konstantin Strauch
Published 2015-01-01

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes

by Maike Werning, Ernst W. Müllner, Georg Mlynek, Verena Dobretzberger, Kristina Djinovic‐Carugo, David M. Baron, Holger Prokisch, Boriana Büchner, Thomas Klopstock, Ulrich Salzer
Published 2020-08-01

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

by Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
Published 2021-12-01