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H

Holger Prokisch

technical university of munich

100H-index
652Paper Count
4.9WCitation Count
Published Papers 271
Publication Date
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-04-25
err0
errOAAI
errZhimei Liu; Xin Duan; Fatemeh Peymani; Jia Wang; Chengjia Bao; Chaolong Xu; Ying Zou; Zixuan Zhang; Yunxi Zhang; Tongyue Li; Martin Pavlov; Junling Wang; Minhan Song; Tianyu Song; Xiaodi Han; Mingxi Sun; Danmin Shen; Ruoyu Duan; Huafang Jiang; Manting Xu; Holger Prokisch; Fang Fang
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Single cell spatial transcriptomics integration deciphers the morphological heterogeneity of atherosclerotic carotid arteries
errNature Communications
IF15.7
err2025-12-18
err0
errOAAI
errJessica Pauli; Daniel Garger; Fatemeh Peymani; Justus Wettich; Nadja Sachs; Johannes Wirth; Katja Steiger; Christina Hillig; Hanrui Zhang; Ira Tabas; Alan Tall; Mingyao Li; Muredach P. Reilly; Daniela Branzan; Holger Prokisch; Michael P. Menden; Lars Maegdefessel
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Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
errJournal of Human Genetics
IF2.5
err2025-07-22
err0
PREAI
errKohta Nakamura; Yoshihito Kishita; Atsuko Imai-Okazaki; Taku Omata; Maki Nodera; Yukiko Yatsuka; Ayumu Sugiura; Naoyuki Matsumoto; Holger Prokisch; Hiroshi Matsumoto; Akira Ohtake; Kei Murayama; Yasushi Okazaki
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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
errBrain
IF11.7
err2025-06-11
err0
PREAI
errMaureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
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Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
erramerican journal of human genetics
IF0
err2025-06-10
err0
PREAI
errHana Antonicka; Woranontee Weraarpachai; Katherine M. Szigety; Robert Kopajtich; James B. Gibson; Johan L.K. Van Hove; Marisa W. Friederich; Piervito Lopriore; Christiane Neuhofer; Roxanne A. Van Hove; Michel A. Cole; Richard Reisdorph; James T. Peterson; Katherine J. Dempsey; Rebecca D. Ganetzky; Michelangelo Mancuso; Holger Prokisch; Eric A. Shoubridge
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errSave
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
errANNALS OF NEUROLOGY
IF7.7
err2025-01-30
err1
errOAAI
errKaymak, Ahmet; Colucci, Fabiana; Ahmadipour, Mahboubeh; Andreasi, Nico Golfre; Rinaldo, Sara; Israel, Zvi; Arkadir, David; Telese, Roberta; Levi, Vincenzo; Zorzi, Giovanna; Carpaneto, Jacopo; Carecchio, Miryam; Prokisch, Holger; Zech, Michael; Garavaglia, Barbara; Bergman, Hagai; Eleopra, Roberto; Mazzoni, Alberto; Romito, Luigi M.
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errSave
Interpretable multimodal machine learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy
errCOMMUNICATIONS MEDICINE
IF6.3
err2024-12-16
err0
errOAAI
errNguyen, Phong B. H.; Garger, Daniel; Lu, Diyuan; Maalmi, Haifa; Prokisch, Holger; Thorand, Barbara; Adamski, Jerzy; Kastenmueller, Gabi; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Suhre, Karsten; Boenhof, Gidon J.; Rathmann, Wolfgang; Roden, Michael; Grallert, Harald; Ziegler, Dan; Herder, Christian; Menden, Michael P.
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Missense variants in the TRPMr7 α-kinase domain are associated with recurrent pediatric acute liver failure
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2024-12-01
err1
errOAAI
errSchlieben, Lea D.; Achleitner, Melanie T.; Bourke, Billy; Diesner, Max; Feichtinger, Rene G.; Fichtner, Alexander; Flechtenmacher, Christa; Hadzic, Nedim; Hegarty, Robert; Heilos, Andreas; Janecke, Andreas; Konstantopoulou, Vassiliki; Lenz, Dominic; Mayr, Johannes A.; Mueller, Thomas; Prokisch, Holger; Vogel, Georg F.
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Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case Report
errMOVEMENT DISORDERS
IF7.6
err2024-10-15
err0
errOAAI
errCastellotti, Barbara; Gellera, Cinzia; Caputo, Davide; Danti, Federica Rachele; Messina, Giuliana; Corbetta, Marinella; Magri, Stefania; Taroni, Franco; Prokisch, Holger; Zech, Michael; Zorzi, Giovanna
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errSave
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
errANNALS OF NEUROLOGY
IF7.7
err2024-09-20
err2
PREAI
errBlackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
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The dynamic exchange of subunits in Complex I is essential for its function in differentiated cells
errBIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
err2024-09-01
err0
PREAI
errWittig, Ilka; Tamez, Paulina Castaneda; Cabrera-Orefice, Alfredo; Heidler, Juliana; Giese, Heiko; Neuhofer, Christiane M.; Prokisch, Holger; Brandes, Ralf P.
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Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort
errMOVEMENT DISORDERS
IF7.6
err2024-08-29
err0
errOAAI
errZorzi, Giovanna; Zibordi, Federica; Sorrentino, Ugo; Prokisch, Holger; Garavaglia, Barbara; Zech, Michael
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errSave
Proteomic Profiling in Dystonia: The Next Frontier for Pathophysiology Research and Biomarker Exploration
errMOVEMENT DISORDERS
IF7.6
err2024-08-12
err0
PREAI
errProkisch, Holger; Zech, Michael
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errSave
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-07-01
err2
PREAI
errMorales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic
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Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
errGENETICS IN MEDICINE
IF6.2
err2024-06-01
err0
errOAAI
errEbstein, Frederic; Latypova, Xenia; Hung, Ka Ying Sharon; Prado, Miguel A.; Lee, Byung-Hoon; Moeller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laetitia; Vignard, Virginie; Poirier, Lea; Toutain, Berenice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Kury, Sebastien; Bezieau, Stephane; Paulo, Joao A.; Finley, Daniel; Krueger, Elke; Ghezzi, Daniele; Isidor, Bertrand
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Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
errNATURE METABOLISM
IF20.8
err2024-05-08
err2
errOAAI
errSung, Andrew Y.; Guerra, Rachel M.; Steenberge, Laura H.; Alston, Charlotte L.; Murayama, Kei; Okazaki, Yasushi; Shimura, Masaru; Prokisch, Holger; Ghezzi, Daniele; Torraco, Alessandra; Carrozzo, Rosalba; Roetig, Agnes; Taylor, Robert W.; Keck, James L.; Pagliarini, David J.
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errSave
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
errBRAIN COMMUNICATIONS
IF4.5
err2024-05-06
err3
errOAAI
errManzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina
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Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle
errNEURON
IF15
err2024-04-01
err5
errOAAI
errSonsalla, Giovanna; Malpartida, Ana Belen; Riedemann, Therese; Gusic, Mirjana; Rusha, Ejona; Bulli, Giorgia; Najas, Sonia; Janjic, Aleks; Hersbach, Bob A.; Smialowski, Pawel; Drukker, Micha; Enard, Wolfgang; Prehn, Jochen H. M.; Prokisch, Holger; Goetz, Magdalena; Masserdotti, Giacomo
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Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders
errMOVEMENT DISORDERS
IF7.6
err2024-03-22
err2
errOAAI
errIndelicato, Elisabetta; Romito, Luigi Michele; Harrer, Philip; Andreasi, Nico Golfre; Colangelo, Isabel; Kopajtich, Robert; Winkelmann, Juliane; Prokisch, Holger; Garavaglia, Barbara; Zech, Michael
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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
errBRAIN
IF11.7
err2024-03-13
err4
errOAAI
errBlickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
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Research Directions

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Co-authors
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H-index: 222 · Papers: 1.5K
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