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Annals of Neurology|March 3, 2015
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromesEva M Reinthaler, Borislav Dejanovic, Dennis Lal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Expert Review of Clinical Pharmacology|April 1, 2021
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literatureAdam Strzelczyk, Janina Grau, Thomas Bast, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
Orphanet Journal of Rare Diseases|June 22, 2021
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort studyJanina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, et al.
Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 21, 2021
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from GermanyLaurent M Willems, Susanne Schubert-Bast, Janina Grau, et al.
CNS Drugs|July 18, 2021
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' PerspectivesLaurent M Willems, Felix Rosenow, Susanne Schubert-Bast, et al.
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
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