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Treatment Options in Congenital Disorders of Glycosylation.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.735348
By:
- Park, Julien H.;
- Marquardt, Thorsten
Publication type:
Article
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Published in:
2022
By:
- Ezer, Shlomit;
- Daana, Muhannad;
- Park, Julien H;
- Yanovsky-Dagan, Shira;
- Nordström, Ulrika;
- Basal, Adily;
- Edvardson, Simon;
- Saada, Ann;
- Otto, Markus;
- Meiner, Vardiella;
- Marklund, Stefan L;
- Andersen, Peter Munch;
- Harel, Tamar
Publication type:
journal article
Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1.
Published in:
2020
By:
- Park, Julien H;
- Elpers, Christiane;
- Marquardt, Thorsten
Publication type:
Letter
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Published in:
2019
By:
- Park, Julien H;
- Elpers, Christiane;
- Reunert, Janine;
- McCormick, Michael L;
- Mohr, Julia;
- Biskup, Saskia;
- Schwartz, Oliver;
- Rust, Stephan;
- Grüneberg, Marianne;
- Seelhöfer, Anja;
- Schara, Ulrike;
- Boltshauser, Eugen;
- Spitz, Douglas R;
- Marquardt, Thorsten
Publication type:
journal article
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
Published in:
Alcohol & Alcoholism. Supplement, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
By:
- Zühlsdorf, Andrea;
- Said, Michael;
- Seger, Christoph;
- Park, Julien H.;
- Reunert, Janine;
- Rust, Stephan;
- Yoshinao Wada;
- Grüneberg, Marianne;
- DuChesne, Ingrid;
- Marquardt, Thorsten
Publication type:
Article
Mannose supplementation in PMM2-CDG.
Published in:
2021
By:
- Taday, Roman;
- Park, Julien H.;
- Grüneberg, Marianne;
- DuChesne, Ingrid;
- Reunert, Janine;
- Marquardt, Thorsten
Publication type:
Letter
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1370, doi. 10.1002/jimd.12306
By:
- Park, Julien H.;
- Mealer, Robert G.;
- Elias, Abdallah F.;
- Hoffmann, Susanne;
- Grüneberg, Marianne;
- Biskup, Saskia;
- Fobker, Manfred;
- Haven, Jaclyn;
- Mangels, Ute;
- Reunert, Janine;
- Rust, Stephan;
- Schoof, Jonathan;
- Schwanke, Corbin;
- Smoller, Jordan W.;
- Cummings, Richard D.;
- Marquardt, Thorsten
Publication type:
Article
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Published in:
Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcad017
By:
- Park, Julien H.;
- Nordström, Ulrika;
- Tsiakas, Konstantinos;
- Keskin, Isil;
- Elpers, Christiane;
- Mannil, Manoj;
- Heller, Raoul;
- Nolan, Melinda;
- Alburaiky, Salam;
- Zetterström, Per;
- Hempel, Maja;
- Schara-Schmidt, Ulrike;
- Biskup, Saskia;
- Steinacker, Petra;
- Otto, Markus;
- Weishaupt, Jochen;
- Hahn, Andreas;
- Santer, René;
- Marquardt, Thorsten;
- Marklund, Stefan L.
Publication type:
Article
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70108-9
By:
- Mealer, Robert G.;
- Jenkins, Bruce G.;
- Chen, Chia-Yen;
- Daly, Mark J.;
- Ge, Tian;
- Lehoux, Sylvain;
- Marquardt, Thorsten;
- Palmer, Christopher D.;
- Park, Julien H.;
- Parsons, Patrick J.;
- Sackstein, Robert;
- Williams, Sarah E.;
- Cummings, Richard D.;
- Scolnick, Edward M.;
- Smoller, Jordan W.
Publication type:
Article
It Is Not Always Alcohol Abuse—A Transferrin Variant Impairing the CDT Test.
Published in:
Alcohol & Alcoholism, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
By:
- Zühlsdorf, Andrea;
- Said, Michael;
- Seger, Christoph;
- Park, Julien H.;
- Reunert, Janine;
- Rust, Stephan;
- Yoshinao Wada;
- Grüneberg, Marianne;
- DuChesne, Ingrid;
- Marquardt, Thorsten
Publication type:
Article
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Published in:
Science Translational Medicine, 2024, v. 16, n. 741, p. 1, doi. 10.1126/scitranslmed.adg2841
By:
- 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, Véronique;
- Hu, Ying;
- Acquaye, Nicole;
- Napoli, Laura;
- Park, Julien H.
Publication type:
Article
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13278, doi. 10.3390/ijms241713278
By:
- Kunzelmann, Karl;
- Ousingsawat, Jiraporn;
- Kraus, Andre;
- Park, Julien H.;
- Marquardt, Thorsten;
- Schreiber, Rainer;
- Buchholz, Björn
Publication type:
Article

Found: 12