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Dr. med. Julien Heinrich Park

Current affiliations

University Children's Hospital - Department for General Paediatrics

0000-0003-2305-9948

Curriculum Vitae (CV)

Inborn errors of metabolism
Congenital disorders of glycosylation (CDG)
Angeborene Störungen des Redox-Stoffwechsels

Academic Education
10/2022 - 08/2024	Master in Neurometabolism and Cell Biology for Clinicians, Universität Barcelona
04/2011 - 11/2017	Medical studies - University of Münster
Work Experience
since 02/2018	Resident Children's University Hospital Münster
03/2020 - 02/2021	Postdoctoral research fellow - Umea University, Sweden
Functions and Memberships
since 2018	Deutsche Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

Publications

Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C. (2024) In: Science translational medicine, 16(741) Type of Publication: Research article (journal)
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins Kunzelmann, Karl; Ousingsawat, Jiraporn; Kraus, Andre; Park, Julien H.; Marquardt, Thorsten; Schreiber, Rainer; Buchholz, Bjorn (2024) In: International Journal of Molecular Sciences (IJMS), 24(17) Type of Publication: Research article (journal)
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 Park, Julien H.; Nordstroem, Ulrika; Tsiakas, Konstantinos; Keskin, Isil; Elpers, Christiane; Mannil, Manoj; Heller, Raoul; Nolan, Melinda; Alburaiky, Salam; Zetterstroem, Per; Hempel, Maja; Schara-Schmidt, Ulrike; Biskup, Saskia; Steinacker, Petra; Otto, Markus; Weishaupt, Jochen; Hahn, Andreas; Santer, Rene; Marquardt, Thorsten; Marklund, Stefan L.; Andersen, Peter M. (2024) In: Brain communications, 5(1) Type of Publication: Research article (journal)
Trial of <i>N</i>-Acetyl-L-Leucine in Niemann-Pick Disease Type C Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos (2024) In: New England Journal of Medicine, 390(5) Type of Publication: Research article (journal)
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype. Berendes LS; Westhoff PS; Wittkowski H; Seelhöfer A; Varga G; Marquardt T; Park JH (2024) In: Molecular Genetics and Metabolism Reports, 38 Type of Publication: Research article (journal)

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Prizes

Bester Vortrag 2024 (1st prize) Awarded by: Medizinische Fakultät der Universität Münster Award given to: Park, Julien Heinrich Announced at: 21/03/2024 \| Date of awarding: 21/03/2024 Type of distinction: Best presentation award
Aufnahme in das Junge Kolleg Awarded by: Nordrhein-Westfälische Akademie der Wissenschaften und der Künste Award given to: Park, Julien Heinrich Announced at: 15/01/2022 \| Date of awarding: 15/01/2022 Type of distinction: Research award or other distinction
Eva Luise Köhler Research Award Awarded by: Eva Luise und Horst Köhler Stiftung für Menschen mit seltenen Erkrankungen Award given to: Marquardt, Thorsten; Park, Julien Heinrich; Kunzelmann, Karl Announced at: 25/02/2021 \| Date of awarding: 15/06/2021 Type of distinction: Research award or other distinction
Glycokids Förderpreis Awarded by: Bundesverein CDG-Syndrom "Glycokids" e.V. Award given to: Park, Julien Heinrich Announced at: 15/05/2019 \| Date of awarding: 15/05/2019 Type of distinction: Research award or other distinction
Best Poster Award 6th RADIZ Rare Disease Summer School Awarded by: RADIZ - Rare Disease Initiative Zurich, University of Zurich Award given to: Park, Julien Heinrich; Berquez, Marine Announced at: 13/07/2018 \| Date of awarding: 13/07/2018 Type of distinction: Best publication award

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