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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 6
2025
Fogel, Brent L. 
ORCID: https://orcid.org/0000-0001-9831-1576; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Lynch, David R. ORCID: https://orcid.org/0000-0001-7168-214X; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A. ORCID: https://orcid.org/0000-0002-9322-0189; Platt, Frances M.; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas und Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273
(2025):
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
In: Annals of Neurology, Bd. 98, Nr. 3: S. 448-470
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-9831-1576; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Lynch, David R. ORCID: https://orcid.org/0000-0001-7168-214X; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A. ORCID: https://orcid.org/0000-0002-9322-0189; Platt, Frances M.; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas und Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273
(2025):
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
In: Annals of Neurology, Bd. 98, Nr. 3: S. 448-470
[PDF, 1MB]
2021
Churchill, Grant C.; Strupp, Michael; Factor, Cailley; Bremova-Ertl, Tatiana; Factor, Mallory; Patterson, Marc C.; Platt, Frances M. und Galione, Antony
(2021):
Acetylation turns leucine into a drug by membrane transporter switching.
In: Scientific Reports, Bd. 11, Nr. 1, 15812
2020
Churchill, Grant C.; Strupp, Michael; Galione, Antony und Platt, Frances M.
(2020):
Unexpected differences in the pharmacokinetics of N-acetyl-DL-leucine enantiomers after oral dosing and their clinical relevance.
In: PLOS One 15(2), e0229585 [PDF, 1MB]
In: PLOS One 15(2), e0229585 [PDF, 1MB]
Kaya, Ecem; Smith, David A.; Smith, Claire; Boland, Barry; Strupp, Michael und Platt, Frances M.
(2020):
Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.
In: Journal of Clinical Medicine, Bd. 9, Nr. 4, 1050
2018
Cortina-Borja, Mario; te Vruchte, Danielle; Mengel, Eugen; Amraoui, Yasmin; Imrie, Jackie; Jones, Simon A.; Dali, Christine I.; Fineran, Paul; Kirkegaard, Thomas; Runz, Heiko; Lachmann, Robin; Bremova-Ertl, Tatiana; Strupp, Michael und Platt, Frances M.
(2018):
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
In: Orphanet Journal of Rare Diseases
13:143
[PDF, 3MB]
2017
Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H.; Shah, Neil; Patel, Smita Y.; Booth, Claire; Runz, Heiko; Dueker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M.; Koletzko, Sibylle; Xavier, Ramnik J.; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E.; Gyrd-Hansen, Mads; Platt, Frances M. und Uhlig, Holm H.
(2017):
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
In: Gut, Bd. 66, Nr. 6: S. 1060-1073
[PDF, 6MB]