Martin Preisel

Affiliations

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.

Publications (8)

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

International journal of neonatal screening

Avec: Johannes Spenger , Esther M Maier , Katharina Wechselberger , Florian Bauder , Melanie Kocher , Wolfgang Sperl , Martin Preisel , Katharina A Schiergens , Vassiliki Konstantopoulou , Wulf Röschinger , Johannes Häberle , Thomas Schmitt-Mechelke , Saskia B Wortmann , Ralph Fingerhut

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Science translational medicine

Avec: Frédéric Ebstein , Sébastien Küry , Victoria Most , Cory Rosenfelt , Marie-Pier Scott-Boyer , Geeske M van Woerden , Thomas Besnard , Jonas Johannes Papendorf , Maja Studencka-Turski , Tianyun Wang , Tzung-Chien Hsieh , Richard Golnik , Dustin Baldridge , Cara Forster , Charlotte de Konink , Selina M W Teurlings , Virginie Vignard , Richard H van Jaarsveld , Lesley Ades , Benjamin Cogné , Cyril Mignot , Wallid Deb , Marjolijn C J Jongmans , F Sessions Cole , Marie-José H van den Boogaard , Jennifer A Wambach , Daniel J Wegner , Sandra Yang , Vickie Hannig , Jennifer Ann Brault , Neda Zadeh , Bruce Bennetts , Boris Keren , Anne-Claire Gélineau , Zöe Powis , Meghan Towne , Kristine Bachman , Andrea Seeley , Anita E Beck , Jennifer Morrison , Rachel Westman , Kelly Averill , Theresa Brunet , Judith Haasters , Melissa T Carter , Matthew Osmond , Patricia G Wheeler , Francesca Forzano , Shehla Mohammed , Yannis Trakadis , Andrea Accogli , Rachel Harrison , Yiran Guo , Hakon Hakonarson , Sophie Rondeau , Geneviève Baujat , Giulia Barcia , René Günther Feichtinger , Johannes Adalbert Mayr , Martin Preisel , Frédéric Laumonnier , Tilmann Kallinich , Alexej Knaus , Bertrand Isidor , Peter Krawitz , Uwe Völker , Elke Hammer , Arnaud Droit , Evan E Eichler , Ype Elgersma , Peter W Hildebrand , François Bolduc , Elke Krüger , Stéphane Bézieau

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Simone Schröder , Yun Li , Gökhan Yigit , Janine Altmüller , Ingrid Bader , Andrea Bevot , Saskia Biskup , Steffi Dreha-Kulaczewski , G Christoph Korenke , Raimund Kottke , Johannes A Mayr , Martin Preisel , Sandra P Toelle , Sarah Wente-Schulz , Saskia B Wortmann , Heidi Hahn , Eugen Boltshauser , Anja Uhmann , Bernd Wollnik , Knut Brockmann

Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Alina Peternell , Christian Lechner , Markus Breu , Martin Preisel , Mareike Schimmel , Astrid Eisenkölbl , Joachim Zobel , Eva-Maria Wendel , Markus Reindl , Kevin Rostásy , Matthias Baumann

A

Genes

Avec: René G Feichtinger , Martin Preisel , Katja Steinbrücker , Karin Brugger , Alexandra Radda , Saskia B Wortmann , Johannes A Mayr

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in

Neurology

Avec: Kim M Thalwitzer , Jan H Driedger , Julie Xian , Afshin Saffari , Pia Zacher , Bigna K Bölsterli , Sarah McKeown Ruggiero , Katie Rose Sullivan , Alexandre N Datta , Christoph Kellinghaus , Jürgen Althaus , Adelheid Wiemer-Kruel , Andreas van Baalen , Armin Pampel , Michael Alber , Hilde M H Braakman , Otfried M Debus , Jonas Denecke , Elke Hobbiebrunken , Ina Breitweg , Danielle Diehl , Hans Eitel , Janina Gburek-Augustat , Martin Preisel , Jan-Ulrich Schlump , Mirjam Laufs , Dilbar Mammadova , Carsten Wurst , Christine Prager , Christa Löhr-Nilles , Peter Martin , Sven F Garbade , Konrad Platzer , Ira Benkel-Herrenbrueck , Kerstin Egler , Walid Fazeli , Johannes R Lemke , Eva Runkel , Barbara Klein , Tobias Linden , Julian Schröter , Heike Steffeck , Bastian Thies , Florian von Deimling , Sabine Illsinger , Ingo Borggraefe , Georg Classen , Dagmar Wieczorek , Georgia Ramantani , Stefan Koelker , Georg F Hoffmann , Markus Ries , Ingo Helbig , Steffen Syrbe

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

International journal of neonatal screening

Avec: Johannes Spenger , Esther M Maier , Katharina Wechselberger , Florian Bauder , Melanie Kocher , Wolfgang Sperl , Martin Preisel , Katharina A Schiergens , Vassiliki Konstantopoulou , Wulf Röschinger , Johannes Häberle , Thomas Schmitt-Mechelke , Saskia B Wortmann , Ralph Fingerhut

Case Report-An Inherited Loss-of-Function

Genes

Avec: René G Feichtinger , Martin Preisel , Karin Brugger , Saskia B Wortmann , Johannes A Mayr

Réseau de co-auteurs

Saskia B Wortmann 5 collaborations

Johannes A Mayr 3 collaborations

Johannes Spenger 2 collaborations

Esther M Maier 2 collaborations

Katharina Wechselberger 2 collaborations

Florian Bauder 2 collaborations

Melanie Kocher 2 collaborations

Wolfgang Sperl 2 collaborations

Katharina A Schiergens 2 collaborations

Vassiliki Konstantopoulou 2 collaborations

Wulf Röschinger 2 collaborations

Johannes Häberle 2 collaborations

Thomas Schmitt-Mechelke 2 collaborations

Ralph Fingerhut 2 collaborations

René G Feichtinger 2 collaborations

Karin Brugger 2 collaborations

Frédéric Ebstein 1 collaboration

Sébastien Küry 1 collaboration

Victoria Most 1 collaboration

Cory Rosenfelt 1 collaboration

Marie-Pier Scott-Boyer 1 collaboration

Geeske M van Woerden 1 collaboration

Thomas Besnard 1 collaboration

Jonas Johannes Papendorf 1 collaboration

Maja Studencka-Turski 1 collaboration

Tianyun Wang 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Richard Golnik 1 collaboration

Dustin Baldridge 1 collaboration

Cara Forster 1 collaboration

Charlotte de Konink 1 collaboration

Selina M W Teurlings 1 collaboration

Virginie Vignard 1 collaboration

Richard H van Jaarsveld 1 collaboration

Lesley Ades 1 collaboration

Benjamin Cogné 1 collaboration

Cyril Mignot 1 collaboration

Wallid Deb 1 collaboration

Marjolijn C J Jongmans 1 collaboration

F Sessions Cole 1 collaboration

Marie-José H van den Boogaard 1 collaboration

Jennifer A Wambach 1 collaboration

Daniel J Wegner 1 collaboration

Sandra Yang 1 collaboration

Vickie Hannig 1 collaboration

Jennifer Ann Brault 1 collaboration

Neda Zadeh 1 collaboration

Bruce Bennetts 1 collaboration

Boris Keren 1 collaboration

Anne-Claire Gélineau 1 collaboration

Zöe Powis 1 collaboration

Meghan Towne 1 collaboration

Kristine Bachman 1 collaboration

Andrea Seeley 1 collaboration

Anita E Beck 1 collaboration

Jennifer Morrison 1 collaboration

Rachel Westman 1 collaboration

Kelly Averill 1 collaboration

Theresa Brunet 1 collaboration

Judith Haasters 1 collaboration

Melissa T Carter 1 collaboration

Matthew Osmond 1 collaboration

Patricia G Wheeler 1 collaboration

Francesca Forzano 1 collaboration

Shehla Mohammed 1 collaboration

Yannis Trakadis 1 collaboration

Andrea Accogli 1 collaboration

Rachel Harrison 1 collaboration

Yiran Guo 1 collaboration

Hakon Hakonarson 1 collaboration

Sophie Rondeau 1 collaboration

Geneviève Baujat 1 collaboration

Giulia Barcia 1 collaboration

René Günther Feichtinger 1 collaboration

Johannes Adalbert Mayr 1 collaboration

Frédéric Laumonnier 1 collaboration

Tilmann Kallinich 1 collaboration

Alexej Knaus 1 collaboration

Bertrand Isidor 1 collaboration

Peter Krawitz 1 collaboration

Uwe Völker 1 collaboration

Elke Hammer 1 collaboration

Arnaud Droit 1 collaboration

Evan E Eichler 1 collaboration

Ype Elgersma 1 collaboration

Peter W Hildebrand 1 collaboration

François Bolduc 1 collaboration

Elke Krüger 1 collaboration

Stéphane Bézieau 1 collaboration

Simone Schröder 1 collaboration

Yun Li 1 collaboration

Gökhan Yigit 1 collaboration

Janine Altmüller 1 collaboration

Ingrid Bader 1 collaboration

Andrea Bevot 1 collaboration

Saskia Biskup 1 collaboration

Steffi Dreha-Kulaczewski 1 collaboration

G Christoph Korenke 1 collaboration

Raimund Kottke 1 collaboration

Sandra P Toelle 1 collaboration

Sarah Wente-Schulz 1 collaboration

Heidi Hahn 1 collaboration

Eugen Boltshauser 1 collaboration

Anja Uhmann 1 collaboration

Bernd Wollnik 1 collaboration

Knut Brockmann 1 collaboration

Alina Peternell 1 collaboration

Christian Lechner 1 collaboration

Markus Breu 1 collaboration

Mareike Schimmel 1 collaboration

Astrid Eisenkölbl 1 collaboration

Joachim Zobel 1 collaboration

Eva-Maria Wendel 1 collaboration

Markus Reindl 1 collaboration

Kevin Rostásy 1 collaboration

Matthias Baumann 1 collaboration

Katja Steinbrücker 1 collaboration

Alexandra Radda 1 collaboration

Kim M Thalwitzer 1 collaboration

Jan H Driedger 1 collaboration

Julie Xian 1 collaboration

Afshin Saffari 1 collaboration

Pia Zacher 1 collaboration

Bigna K Bölsterli 1 collaboration

Sarah McKeown Ruggiero 1 collaboration

Katie Rose Sullivan 1 collaboration

Alexandre N Datta 1 collaboration

Christoph Kellinghaus 1 collaboration

Jürgen Althaus 1 collaboration

Adelheid Wiemer-Kruel 1 collaboration

Andreas van Baalen 1 collaboration

Armin Pampel 1 collaboration

Michael Alber 1 collaboration

Hilde M H Braakman 1 collaboration

Otfried M Debus 1 collaboration

Jonas Denecke 1 collaboration

Elke Hobbiebrunken 1 collaboration

Ina Breitweg 1 collaboration

Danielle Diehl 1 collaboration

Hans Eitel 1 collaboration

Janina Gburek-Augustat 1 collaboration

Jan-Ulrich Schlump 1 collaboration

Mirjam Laufs 1 collaboration

Dilbar Mammadova 1 collaboration

Carsten Wurst 1 collaboration

Christine Prager 1 collaboration

Christa Löhr-Nilles 1 collaboration

Peter Martin 1 collaboration

Sven F Garbade 1 collaboration

Konrad Platzer 1 collaboration

Ira Benkel-Herrenbrueck 1 collaboration

Kerstin Egler 1 collaboration

Walid Fazeli 1 collaboration

Johannes R Lemke 1 collaboration

Eva Runkel 1 collaboration

Barbara Klein 1 collaboration

Tobias Linden 1 collaboration

Julian Schröter 1 collaboration

Heike Steffeck 1 collaboration

Bastian Thies 1 collaboration

Florian von Deimling 1 collaboration

Sabine Illsinger 1 collaboration

Ingo Borggraefe 1 collaboration

Georg Classen 1 collaboration

Dagmar Wieczorek 1 collaboration

Georgia Ramantani 1 collaboration

Stefan Koelker 1 collaboration

Georg F Hoffmann 1 collaboration

Markus Ries 1 collaboration

Ingo Helbig 1 collaboration

Steffen Syrbe 1 collaboration