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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2022
Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysisMarkus Ries, Grecia Mendoza, Laila Arash-Kaps, et al.
Pharmaceutics|February 26, 2022
Adalimumab Decorated Nanoparticles Enhance Antibody Stability and Therapeutic Outcome in Epithelial Colitis TargetingMarkus Ries, Brice Moulari, Maryam A Shetab Boushehri, et al.
Molecular Genetics and Metabolism|July 6, 2004
Neuropathology provides clues to the pathophysiology of Gaucher diseaseKondi Wong, Ellen Sidransky, Ajay Verma, et al.
Human Molecular Genetics|February 22, 2015
Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry miceJin-Song Shen, Xing-Li Meng, Mary Wight-Carter, et al.
Neurogenetics|January 18, 2006
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier-Barichard, et al.
Therapeutic Advances in Respiratory Disease|January 7, 2026
Advances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMAPhilipp Höger, Markus Ries, Arturo Olivares Rivera, et al.
Studies in Health Technology and Informatics|August 8, 2013
Workflows in cancer treatment and their influence upon clinical documentationThomas Bürkle, Marcus Martin, Alexander Schütz, et al.
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
AJNR. American Journal of Neuroradiology|October 10, 2002
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellumMarjo S van der Knaap, SakkuBai Naidu, Petra J W Pouwels, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 2, 2007
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approachDavid F Moore, Monique P Gelderman, Paulo A Ferreira, et al.
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