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Antioxidants (Basel, Switzerland)|August 27, 2021
Targeted Ablation of Primary Cilia in Differentiated Dopaminergic Neurons Reduces Striatal Dopamine and Responsiveness to Metabolic StressRasem Mustafa, Chahinaz Rawas, Nadja Mannal, et al.
Human Genetics|July 16, 2011
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood groupGuntram Borck, Naseebullah Kakar, Jochen Hoch, et al.
Neurobiology of Aging|December 21, 2019
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and SwedenRüstem Yilmaz, Kathrin Müller, David Brenner, et al.
Neurogenetics|June 21, 2023
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbiditySophie Hebestreit, Janine Schwahn, Vesile Sandikci, et al.
EMBO Reports|June 23, 2022
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-functionDevesh C Pant, Janani Parameswaran, Lu Rao, et al.
Brain : a Journal of Neurology|December 11, 2025
Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosisÓscar González-Velasco, Rosanna Parlato, Rüstem Yilmaz, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.
Molecular Psychiatry|April 7, 2020
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3ccMateusz C Ambrozkiewicz, Ekaterina Borisova, Manuela Schwark, et al.
Brain Communications|November 3, 2025
Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcificationJanine Schwahn, Sophie Hebestreit, Olivia Kosche, et al.
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