Hormos S. Dafsari

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 35 publications

Clinical and biochemical footprints of inherited disorders of autophagy.

Clinical and biochemical footprints of inherited disorders of autophagy.

Journal: Molecular genetics and metabolism
Published: June 30, 2026

Safety and feasibility of oral zinc for patients with GNAO1-related disorders (ZINCGNAO1): an open-label, single-arm, single-centre, pilot trial in Germany.

Safety and feasibility of oral zinc for patients with GNAO1-related disorders (ZINCGNAO1): an open-label, single-arm, single-centre, pilot trial in Germany.

Journal: EClinicalMedicine
Published: May 26, 2026

Vitamin B12 alleviates spliceosomopathy via phospholipid remodeling.

Vitamin B12 alleviates spliceosomopathy via phospholipid remodeling.

Journal: Research square
Published: December 03, 2025

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.

Journal: Journal of human immunity
Published: November 17, 2025

Vitamin B12 alleviates spliceosomopathy via phospholipid remodeling.

Vitamin B12 alleviates spliceosomopathy via phospholipid remodeling.

Journal: Nature communications
Published: November 10, 2025

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

Journal: Autophagy reports
Published: October 16, 2025

Letter Concerning Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

Letter Concerning Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

Journal: Annals of neurology
Published: August 23, 2025

Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation.

Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation.

Journal: Nature communications
Published: June 04, 2025

Pancreatic involvement in EPG5-related disorders.

Pancreatic involvement in EPG5-related disorders.

Journal: Molecular genetics and metabolism reports
Published: May 31, 2025

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

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology
Published: October 28, 2024

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

Journal: American journal of human genetics
Published: September 27, 2024
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Last Updated: 09/26/2026