Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death

by Elstner, Matthias, Morris, Christopher M., Heim, Katharina, Bender, Andreas, Mehta, Divya, Jaros, Evelyn, Klopstock, Thomas, Meitinger, Thomas, Turnbull, Douglass M., Prokisch, Holger
Published in Acta neuropathologica

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

by Feichtinger, René G, Mucha, Bettina E, Hengel, Holger, Orfi, Zakaria, Makowski, Christine, Dort, Junio, D'Anjou, Guy, Nguyen, Thi Tuyet Mai, Buchert, Rebecca, Juenger, Hendrik, Freisinger, Peter, Baumeister, Sarah, Schoser, Benedikt, Ahting, Uwe, Keimer, Reinhard, Nguyen, Cam-Tu Emilie, Fabre, Paul, Gauthier, Julie, Miguet, Marguerite, Lopes, Fátima, AlHakeem, Afnan, AlHashem, Amal, Tabarki, Brahim, Kandaswamy, Krishna Kumar, Bauer, Peter, Steinbacher, Peter, Prokisch, Holger, Sturm, Marc, Strom, Tim M, Ellezam, Benjamin, Mayr, Johannes A, Schöls, Ludger, Michaud, Jacques L, Campeau, Philippe M, Haack, Tobias B, Dumont, Nicolas A
Published in Genetics in medicine

Characterization of whole-genome autosomal differences of DNA methylation between men and women

by Singmann, Paula, Shem-Tov, Doron, Wahl, Simone, Grallert, Harald, Fiorito, Giovanni, Shin, So-Youn, Schramm, Katharina, Wolf, Petra, Kunze, Sonja, Baran, Yael, Guarrera, Simonetta, Vineis, Paolo, Krogh, Vittorio, Panico, Salvatore, Tumino, Rosario, Kretschmer, Anja, Gieger, Christian, Peters, Annette, Prokisch, Holger, Relton, Caroline L, Matullo, Giuseppe, Illig, Thomas, Waldenberger, Melanie, Halperin, Eran
Published in Epigenetics & chromatin

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

by Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita
Published in Brain (London, England : 1878)

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

by Stavsky, Alexandra, Stoler, Ohad, Kostic, Marko, Katoshevsky, Tomer, Assali, Essam A, Savic, Ivana, Amitai, Yael, Prokisch, Holger, Leiz, Steffen, Daumer-Haas, Cornelia, Fleidervish, Ilya, Perocchi, Fabiana, Gitler, Daniel, Sekler, Israel
Published in Communications biology

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

by Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike
Published in International journal of molecular sciences

TREML2 Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General Population

by Kühn, Annemarie Luise, Frenzel, Stefan, Teumer, Alexander, Wittfeld, Katharina, Garvert, Linda, Weihs, Antoine, Homuth, Georg, Prokisch, Holger, Bülow, Robin, Nauck, Matthias, Völker, Uwe, Völzke, Henry, Grabe, Hans Jörgen, Van der Auwera, Sandra
Published in International journal of molecular sciences

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

by Muñoz-Pujol, Gerard, Alforja-Castiella, Socorro, Casaroli-Marano, Ricardo, Morales-Romero, Blai, García-Villoria, Judit, Yépez, Vicente A., Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes, Antonia
Published in International journal of molecular sciences

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

by Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Published in Journal of clinical immunology

Identification of a Novel Variant in MT-CO3 Causing MELAS

by Xu, Manting, Kopajtich, Robert, Elstner, Matthias, Wang, Zhaoxia, Liu, Zhimei, Wang, Junling, Prokisch, Holger, Fang, Fang
Published in Frontiers in genetics

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

by Schlieben, Lea D, Prokisch, Holger, Yépez, Vicente A
Published in Frontiers in molecular biosciences

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa

by Bellingrath, Julia-Sophia, Ochakovski, G Alex, Seitz, Immanuel P, Kohl, Susanne, Zrenner, Eberhart, Hanig, Nicola, Prokisch, Holger, Weber, Bernhard H, Downes, Susan M, Ramsden, Simon, MacLaren, Robert E, Fischer, M Dominik
Published in Investigative ophthalmology & visual science

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

by Danhauser, Katharina, Sauer, Sven W., Haack, Tobias B., Wieland, Thomas, Staufner, Christian, Graf, Elisabeth, Zschocke, Johannes, Strom, Tim M., Traub, Thorsten, Okun, Jürgen G., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Kölker, Stefan
Published in American journal of human genetics

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

by Luna‐Sánchez, Marta, Hidalgo‐Gutiérrez, Agustín, Hildebrandt, Tatjana M, Chaves‐Serrano, Julio, Barriocanal‐Casado, Eliana, Santos‐Fandila, Ángela, Romero, Miguel, Sayed, Ramy KA, Duarte, Juan, Prokisch, Holger, Schuelke, Markus, Distelmaier, Felix, Escames, Germaine, Acuña‐Castroviejo, Darío, López, Luis C
Published in EMBO molecular medicine

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse

by Biagosch, Caroline A., Vidali, Silvia, Faerberboeck, Michael, Hensler, Svenja-Viola, Becker, Lore, Amarie, Oana V., Aguilar-Pimentel, Antonio, Garrett, Lillian, Klein-Rodewald, Tanja, Rathkolb, Birgit, Zanuttigh, Enrica, Calzada-Wack, Julia, da Silva-Buttkus, Patricia, Rozman, Jan, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Janik, Dirk, Wurst, Wolfgang, Mayr, Johannes A., Klopstock, Thomas, Meitinger, Thomas, Prokisch, Holger, Iuso, Arcangela
Published in Mammalian genome

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export

by Stalke, Amelie, Pfister, Eva-Doreen, Baumann, Ulrich, Eilers, Marlies, Schäffer, Vera, Illig, Thomas, Auber, Bernd, Schlegelberger, Brigitte, Brackmann, Renate, Prokisch, Holger, Krooss, Simon, Bohne, Jens, Skawran, Britta
Published in European journal of human genetics : EJHG

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

by Ban, Rui, Liu, Zhimei, Shimura, Masaru, Tong, Xiao, Wang, Junling, Yang, Lei, Xu, Manting, Xiao, Jing, Murayama, Kei, Elstner, Matthias, Prokisch, Holger, Fang, Fang
Published in Frontiers in genetics

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress a...

by Venco, Paola, Bonora, Massimo, Giorgi, Carlotta, Papaleo, Elena, Iuso, Arcangela, Prokisch, Holger, Pinton, Paolo, Tiranti, Valeria
Published in Frontiers in genetics

Network reconstruction for trans acting genetic loci using multi-omics data and prior information

by Hawe, Johann S, Saha, Ashis, Waldenberger, Melanie, Kunze, Sonja, Wahl, Simone, Müller-Nurasyid, Martina, Prokisch, Holger, Grallert, Harald, Herder, Christian, Peters, Annette, Strauch, Konstantin, Theis, Fabian J, Gieger, Christian, Chambers, John, Battle, Alexis, Heinig, Matthias
Published in Genome medicine

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

by Catania, Alessia, Iuso, Arcangela, Bouchereau, Juliette, Kremer, Laura S, Paviolo, Marina, Terrile, Caterina, Bénit, Paule, Rasmusson, Allan G, Schwarzmayr, Thomas, Tiranti, Valeria, Rustin, Pierre, Rak, Malgorzata, Prokisch, Holger, Schiff, Manuel
Published in Orphanet journal of rare diseases