J. Magg

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

R. Krüger, L. Schöls, C. Funke, 2018, Front. Mol. Neurosci..

Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease

O. Riess, M. Schwab, E. Singer, 2019, Cells.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat.

C. Calaminus, O. Riess, B. Pichler, 2015, Brain : a journal of neurology.

Unilateral Hearing Loss Due to Cochlear Nerve Involvement as Isolated Symptom of a Primary Medulloblastoma

T. Nägele, M. Schuhmann, M. Ebinger, 2019, Neuropediatrics.

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA

S. Poths, O. Riess, M. Bonin, 2008, Proteomics. Clinical applications.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA

S. Poths, O. Riess, M. Bonin, 2008, Proteomics. Clinical applications.