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Neuropediatrics|January 29, 2024
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile ParkinsonismJohannes Gebert, Theresa Brunet, Matias Wagner, et al.European Journal of Medical Genetics|January 13, 2022
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disabilityMartin Krenn, Sylvia Kepa, Gregor Kasprian, et al.Gene|January 7, 2022
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndromeDominik S Westphal, Elisa Mastantuono, Heide Seidel, et al.Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.Gene|June 2, 2020
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complexJürgen Klinner, Marcus Krüger, Theresa Brunet, et al.Clinical EEG and Neuroscience|August 18, 2018
Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case StudiesAnna M Tiefes, Till Hartlieb, Moritz Tacke, et al.Journal of Neuromuscular Diseases|September 5, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disordersMartin Krenn, Axel Schmidt, Matias Wagner, et al.Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.Developmental Medicine and Child Neurology|December 3, 2010
Anisotropy of transcallosal motor fibres indicates functional impairment in children with periventricular leukomalaciaInga Koerte, Paula Pelavin, Berit Kirmess, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 23, 2020
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutationsAbigail Licata, Timo Grimmer, Juliane Winkelmann, et al.Pageof 25