Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation...

Por Franziska Peter, Michaela Trilck, Michael Rabenstein, Arndt Rolfs, Moritz J. Frech
Publicado em 2017-06-01

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Por Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs
Publicado em 2019-06-01

Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.

Por Christian Tanislav, Dursun Guenduez, Christoph Liebetrau, Anne Kathrin Giese, Sabrina Eichler, Nicole Sieweke, Maria Speth, Timm Bauer, Christian Hamm, Arndt Rolfs
Publicado em 2016-01-01

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

Por Noa Hurvitz, Tama Dinur, Michal Becker-Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Aya Abramov, Ari Zimran, Shoshana Revel-Vilk
Publicado em 2019-06-01

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Por Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Publicado em 2022-05-01

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Por Xiao Feng, Claudia Cozma, Supansa Pantoom, Christina Hund, Katharina Iwanov, Janine Petters, Christin Völkner, Claudia Bauer, Florian Vogel, Peter Bauer, Frank U. Weiss, Markus M. Lerch, Anne-Marie Knospe, Andreas Hermann, Moritz J. Frech, Jiankai Luo, Arndt Rolfs, Jan Lukas
Publicado em 2019-10-01