All papers authored by Holger Prokisch
Refreshing results…
2022
Bigna K. Bölsterli 
,
Eugen Boltshauser ,
Luigi Palmieri ,
Johannes Spenger ,
Michaela Brunner-Krainz,
Felix Distelmaier ,
Peter Freisinger ,
Tobias Geis ,
Andrea L. Gropman ,
Johannes Häberle ,
Julia Hentschel ,
Bruno Jeandidier,
Daniela Karall ,
Boris Keren ,
Annick Klabunde-Cherwon
and 17 other authors
Download from doi.org
,
Eugen Boltshauser ,
Luigi Palmieri ,
Johannes Spenger ,
Michaela Brunner-Krainz,
Felix Distelmaier ,
Peter Freisinger ,
Tobias Geis ,
Andrea L. Gropman ,
Johannes Häberle ,
Julia Hentschel ,
Bruno Jeandidier,
Daniela Karall ,
Boris Keren ,
Annick Klabunde-Cherwon
and 17 other authors
Download from doi.org
Sarah L. Stenton,
Marketa Tesarova,
Natalia L. Sheremet,
Claudia B. Catarino,
Valerio Carelli,
Elżbieta Ciara,
Kathryn Curry,
Martin Engvall,
Leah R. Fleming,
Peter Freisinger,
Katarzyna Iwanicka-Pronicka,
Elżbieta Jurkiewicz,
Thomas Klopstock,
Mary K. Koenig,
Hana Kolářová
and 10 other authors
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Download from academic.oup.com
2021
Silvia Vidali,
Raffaele Gerlini ,
Martin Hrabě de Angelis,
Kyle Thompson,
Jill E. Urquhart,
Jana Meisterknecht,
Juan Antonio Aguilar‐Pimentel,
Oana V. Amarie,
Lore Becker ,
Catherine Breen,
Julia Calzada‐Wack,
Nirav F. Chhabra ,
Yi‐Li Cho,
Patricia da Silva‐Buttkus,
René G. Feichtinger
and 30 other authors
,
Martin Hrabě de Angelis,
Kyle Thompson,
Jill E. Urquhart,
Jana Meisterknecht,
Juan Antonio Aguilar‐Pimentel,
Oana V. Amarie,
Lore Becker ,
Catherine Breen,
Julia Calzada‐Wack,
Nirav F. Chhabra ,
Yi‐Li Cho,
Patricia da Silva‐Buttkus,
René G. Feichtinger
and 30 other authors
Characterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes
Download from doi.org
Caroline A. Biagosch ,
Silvia Vidali ,
Michael Faerberboeck,
Svenja-Viola Hensler,
Lore Becker ,
Oana V. Amarie ,
Antonio Aguilar-Pimentel ,
Lillian Garrett ,
Tanja Klein-Rodewald ,
Birgit Rathkolb ,
Enrica Zanuttigh ,
Julia Calzada-Wack ,
Patricia da Silva-Buttkus ,
Jan Rozman ,
Irina Treise
and 10 other authors
,
Silvia Vidali ,
Michael Faerberboeck,
Svenja-Viola Hensler,
Lore Becker ,
Oana V. Amarie ,
Antonio Aguilar-Pimentel ,
Lillian Garrett ,
Tanja Klein-Rodewald ,
Birgit Rathkolb ,
Enrica Zanuttigh ,
Julia Calzada-Wack ,
Patricia da Silva-Buttkus ,
Jan Rozman ,
Irina Treise
and 10 other authors
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse
Download from link.springer.com
Christian Mertes ,
Ines F. Scheller ,
Vicente A. Yépez ,
Muhammed H. Çelik,
Yingjiqiong Liang,
Laura S. Kremer,
Mirjana Gusic ,
Holger Prokisch ,
Julien Gagneur
,
Ines F. Scheller ,
Vicente A. Yépez ,
Muhammed H. Çelik,
Yingjiqiong Liang,
Laura S. Kremer,
Mirjana Gusic ,
Holger Prokisch ,
Julien Gagneur
Detection of aberrant splicing events in RNA-seq data using FRASER
Download from doi.org
Sarah L. Stenton ,
Natalia L. Sheremet,
Claudia B. Catarino ,
Natalia A. Andreeva,
Zahra Assouline,
Piero Barboni,
Ortal Barel,
Riccardo Berutti ,
Igor O. Bychkov ,
Leonardo Caporali ,
Mariantonietta Capristo,
P. Charbel Issa,
Michele Carbonelli,
Maria Lucia Cascavilla,
Peter Freisinger
and 40 other authors
,
Natalia L. Sheremet,
Claudia B. Catarino ,
Natalia A. Andreeva,
Zahra Assouline,
Piero Barboni,
Ortal Barel,
Riccardo Berutti ,
Igor O. Bychkov ,
Leonardo Caporali ,
Mariantonietta Capristo,
P. Charbel Issa,
Michele Carbonelli,
Maria Lucia Cascavilla,
Peter Freisinger
and 40 other authors
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Download from doi.org
2020
Thomas Meul,
Korbinian Berschneider,
Sabine Schmitt,
Christoph H. Mayr,
Laura F. Mattner,
Herbert B. Schiller,
Ayse S. Yazgili,
Xinyuan Wang,
Christina Lukas,
Camille Schlesser,
Cornelia Prehn,
Jerzy Adamski,
Elisabeth Graf,
Thomas Schwarzmayr,
Fabiana Perocchi
and 9 other authors
Mitochondrial Regulation of the 26S Proteasome
Download from doi.org
Cesar Augusto Pinheiro Ferreira Alves,
Ying Zou,
Alves CA; Alves C; Alves Capf ,
Sara Reis Teixeira,
Juan Sebastian Martin‐Saavedra ,
Sarah L. Stenton,
Fabricio Guimaraes Goncalves,
Francesco Lo Russo,
Francesco Lo Russo,
Colleen Muraresku,
Elizabeth M. McCormick,
Hua Cheng,
Marni J. Falk,
Zarazuela Zolkipli‐Cunningham,
Rebecca Ganetzky
and 5 other authors
,
Sara Reis Teixeira,
Juan Sebastian Martin‐Saavedra ,
Sarah L. Stenton,
Fabricio Guimaraes Goncalves,
Francesco Lo Russo,
Francesco Lo Russo,
Colleen Muraresku,
Elizabeth M. McCormick,
Hua Cheng,
Marni J. Falk,
Zarazuela Zolkipli‐Cunningham,
Rebecca Ganetzky
and 5 other authors
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Download from api.wiley.com
2019
Valentina Del Dotto,
Farid Ullah ,
Ivano Di Meo ,
Pamela Magini,
Mirjana Gusic,
Alessandra Maresca,
Leonardo Caporali ,
Flavia Palombo ,
Francesca Tagliavini,
Evan Harris Baugh,
Bertil Macao,
Zsolt Szilagyi,
Camille Peron,
Margaret A. Gustafson,
Kamal Khan
and 32 other authors
,
Ivano Di Meo ,
Pamela Magini,
Mirjana Gusic,
Alessandra Maresca,
Leonardo Caporali ,
Flavia Palombo ,
Francesca Tagliavini,
Evan Harris Baugh,
Bertil Macao,
Zsolt Szilagyi,
Camille Peron,
Margaret A. Gustafson,
Kamal Khan
and 32 other authors
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Download from doi.org
2018
Makenzie Saoura,
Christopher A. Powell ,
Robert Kopajtich,
Ahmad Alahmad,
Haya H. Al-Balool,
Buthaina Albash,
Majid Alfadhel,
Charlotte L. Alston ,
Enrico Bertini ,
Penelope E. Bonnen,
Drago Bratkovic ,
Rosalba Carrozzo ,
Maria A. Donati,
Michela Di Nottia,
Daniele Ghezzi
and 18 other authors
Upload
,
Robert Kopajtich,
Ahmad Alahmad,
Haya H. Al-Balool,
Buthaina Albash,
Majid Alfadhel,
Charlotte L. Alston ,
Enrico Bertini ,
Penelope E. Bonnen,
Drago Bratkovic ,
Rosalba Carrozzo ,
Maria A. Donati,
Michela Di Nottia,
Daniele Ghezzi
and 18 other authors
Upload
2017
Laura S. Kremer,
Daniel M. Bader ,
Christian Mertes ,
Robert Kopajtich,
Garwin Pichler,
Arcangela Iuso,
Tobias B. Haack,
Elisabeth Graf,
Thomas Schwarzmayr,
Caterina Terrile,
Eliska Konafikova,
Eliška Koňaříková,
Birgit Repp,
Gabi Kastenmüller,
Jerzy Adamski
and 18 other authors
,
Christian Mertes ,
Robert Kopajtich,
Garwin Pichler,
Arcangela Iuso,
Tobias B. Haack,
Elisabeth Graf,
Thomas Schwarzmayr,
Caterina Terrile,
Eliska Konafikova,
Eliška Koňaříková,
Birgit Repp,
Gabi Kastenmüller,
Jerzy Adamski
and 18 other authors
Genetic diagnosis of Mendelian disorders via RNA sequencing
Download from doi.orgMissing publications? Search for publications with a matching author name.