Elisabeth Schuler

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 14 publications

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Journal: Journal of neurology

Published: September 15, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Journal: Human genetics

Published: September 30, 2022

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: June 06, 2020

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 18, 2020

40-Year Longitudinal Caries Development in German Adolescents in the Light of New Caries Measures.

40-Year Longitudinal Caries Development in German Adolescents in the Light of New Caries Measures.

Journal: Caries research

Published: March 27, 2019

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: January 14, 2019

Caries Trends in the Primary Dentition of 6- to 7-Year-old Schoolchildren in Germany from 1994 to 2016: Results from the German National Oral Health Surveys in Children.

Caries Trends in the Primary Dentition of 6- to 7-Year-old Schoolchildren in Germany from 1994 to 2016: Results from the German National Oral Health Surveys in Children.

Journal: Caries research

Published: December 13, 2018

Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections.

Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections.

Journal: Seizure

Published: June 27, 2018

Introducing a Specific Term to Present Caries Experience in Populations with Low Caries Prevalence: Specific Affected Caries Index (SaC).

Introducing a Specific Term to Present Caries Experience in Populations with Low Caries Prevalence: Specific Affected Caries Index (SaC).

Journal: Caries research

Published: April 20, 2018

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Journal: Brain : a journal of neurology

Published: November 14, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026