Author
University Hospital BonnORCID 0000-0001-6174-5442Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Mehrdad A. Estiar, Eric Yu, Parizad Varghaei…·Ziv Gan‐Or
This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.
Jason W. Robertson, Isaac Mawusi Adanyeguh, David J. Arpin…·Carlos Roberto Hernandez-Castillo
This study uses MRI volumetrics to analyze cerebellar and brainstem degeneration in SCA3, finding consistent atrophy patterns and reduced cerebrocerebellar covariance.
Magda M. Santana, Patrick Silva, Maria M Pinto…·Luís Pereira de Almeida
Yasuo Nakahara, Jun Mitsui, Hidetoshi Date…·Shoji Tsuji
This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.
Mafalda Raposo, Jeannette Hübener‐Schmid, Rebecca Tagett…·Manuela Caroline Ferreira Lima
The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann
The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.