Robert Steinfeld
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 37 publications
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Journal: medRxiv : the preprint server for health sciences
Published: August 16, 2024
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach.
Journal: Journal of inherited metabolic disease
Published: September 06, 2023
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.
Journal: Science advances
Published: April 15, 2022
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Journal: Annals of neurology
Published: August 23, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Journal: Parkinsonism & related disorders
Published: June 29, 2021
Early childhood neurodevelopmental outcome after open prenatal spina bifida aperta repair.
Journal: Developmental medicine and child neurology
Published: June 18, 2021
Preoperative clinical symptomatology and stroke burden in pediatric moyamoya angiopathy: Defining associated risk variables.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 09, 2021
High-grade extracellular vesicles preparation by combined size-exclusion and affinity chromatography.
Journal: Scientific reports
Published: February 21, 2021
Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1.
Journal: Neuropediatrics
Published: January 29, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Journal: Journal of medical genetics
Published: January 22, 2021
Last Updated: 09/26/2026