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Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. MC Patterson , U Ramaswami , A Donald , T Foltan , M Gautschi , P Gissen , A Hahn , SA Jones , R Kay , M Kolniková , J Park , S Reichmannová , M Walterfang , P Wibawa , M Rohrbach , K Martakis , T Bremova-Ertl (2025) In: Neurology, 105(1). Research article (journal)
State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres. SC Grünert , TGJ Derks , A Rossi , group Collaboration GSD (2025) In: Molecular Genetics and Metabolism, 145(3). Research article (journal)
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). 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, 24(17). 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). 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). 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. Research article (journal)
Heme oxygenase-1 protects cells from replication stress. Chudy P; Kochan J; Wawro M; Nguyen P; Gorczyca M; Varanko A; Retka A; Ghadei SS; Napieralska E; Grochot-Przęczek A; Szade K; Berendes LS; Park J; Sokołowski G; Yu Q; Józkowicz A; Nowak WN; Krzeptowski W (2024) In: Redox Biology, 75. Research article (journal)
Treatment of AICA ribosiduria by suppression of de novo purine synthesis. Park JH; Och U; Braun T; Kriegel MF; Biskup S; Korall H; Uhlig CE; Marquardt T (2024) In: Molecular Genetics and Metabolism, 141(3). Research article (journal)
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders Park Julien , Bremova-Ertl Tatiana , Brands Marion , Foltan Tomas , Gautschi Matthias , Gissen Paul , Hahn Andreas , Jones Simon , Arash-Kaps Laila , Kolnikova Miriam , Patterson Marc , Perlman Susan , Ramaswami Uma , Reichmannová Stella , Rohrbach Marianne , Schneider A. Susanne , Shaikh Aasef , Sivananthan Siyamini , Synofzik Matthis , Walterfarng Mark , Wibawa Pierre , Martakis Kyriakos , Manto Mario (2024) In: Journal of Neurology, 271(10). Research article (journal)