Martina Baethmann
Munich, BY, 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.
Journal: Annals of neurology
Published: March 04, 2025
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 09, 2020
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Journal: Journal of inherited metabolic disease
Published: February 19, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Journal: Annals of clinical and translational neurology
Published: December 04, 2018
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
Journal: European journal of medical genetics
Published: November 06, 2017
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Journal: Journal of medical genetics
Published: January 10, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 12, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
Journal: Orphanet journal of rare diseases
Published: March 03, 2016
Syllabus neuropediatrics structures, quality and perspectives of outpatient, inpatient and rehabilitative care version 2.0 (part 1)
Journal: Neuropediatrics
Published: March 26, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Journal: Neurology
Published: February 14, 2014
Last Updated: 09/26/2026