Sandra P. Toelle
Zurich, ZH 8008, Switzerland
Last Updated: 09/26/2026
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Found 20 publications
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Journal: Brain : a journal of neurology
Published: October 04, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Journal: American journal of human genetics
Published: November 17, 2023
Laser interstitial thermal therapy in pediatric cerebellar epilepsy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: July 03, 2023
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Journal: Journal of lipid research
Published: May 11, 2023
Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome.
Journal: Journal of pediatric hematology/oncology
Published: July 18, 2022
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Journal: JAMA ophthalmology
Published: May 20, 2021
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 24, 2020
Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.
Journal: Neuroepidemiology
Published: November 14, 2019
Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)
Journal: Klinische Monatsblatter fur Augenheilkunde
Published: February 15, 2019
Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity.
Journal: Neuropediatrics
Published: May 24, 2018
Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly.
Journal: Fetal diagnosis and therapy
Published: May 10, 2017
Last Updated: 09/26/2026