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Segal, J.* et al.: Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency. J. Inherit. Metab. Dis., accepted (2019)
André, V. et al.: Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data. PLoS Biol. 16:e2005019 (2018)
Jensen, L.R.* et al.: A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene. Biochim. Biophys. Acta-Mol. Basis Dis., accepted (2018)
Müller, K.* et al.: Comprehensive analysis of the mutation spectrum in 301 German ALS families. J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
Schnerwitzki, D.* et al.: Neuron-specific inactivation of Wt1 alters locomotion in mice and changes interneuron composition in the spinal cord. Life Sci. All. 1:e201800106 (2018)
Tan, J.* et al.: Estimated lifetime prevalences of autosomal mitochondrial disorders based on allele frequencies of pathogenic variants in exome databases. Eur. J. Neurol. 25, 31-31 (2018)
Egaña, I.* et al.: Female mice lacking Pald1 exhibit endothelial cell apoptosis and emphysema. Sci. Rep. 7:15453 (2017)
Fuchs, H. et al.: Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic. Behav. Brain Res. 352, 187-196 (2017)
Garrett, L. et al.: Fgf9Y162C mutation alters information processing and social memory in mice. Mol. Neurobiol. 55, 4580–4595 (2017)
Kumar, S.* et al.: Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1I27N mutant mice. J. Biomed. Sci. 24:57 (2017)
Ryan, D.P.* et al.: A paternal methyl donor-rich diet altered cognitive and neural functions in offspring mice. Mol. Psychiatry 23, 1345-1355 (2017)
Salminen, A.V. et al.: Meis1 effects on motor phenotypes and the sensorimotor system in mice. Dis. Model. Mech. 10, 981-991 (2017)
Schludi, M.H.* et al.: Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol. 134, 241–254 (2017)
Xie, K.* et al.: Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice. Nat. Commun. 8:155 (2017)
Zhou, Q.* et al.: Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins. EMBO Mol. Med. 9, 687-702 (2017)
Catarino, C.B.* et al.: Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion 36, 15-20 (2016)
Kremer, L.S. et al.: NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)
Sabrautzki, S. et al.: Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. Mamm. Genome 27, 587-598 (2016)