Andreas Ohlenbusch

Robert Koch Str. 40
Goettingen, NI 37075, Germany

Last Updated: 09/26/2026

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Found 28 publications

Mitochondrial dysfunction and impaired oxidative stress defense as potential trigger of cerebral X-linked adrenoleukodystrophy.

Mitochondrial dysfunction and impaired oxidative stress defense as potential trigger of cerebral X-linked adrenoleukodystrophy.

Journal: Free radical biology & medicine

Published: September 06, 2025

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Journal: Journal of clinical medicine

Published: July 17, 2025

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.

Journal: Orphanet journal of rare diseases

Published: December 02, 2020

A novel remitting leukodystrophy associated with a variant in FBP2.

A novel remitting leukodystrophy associated with a variant in FBP2.

Journal: Brain communications

Published: November 20, 2020

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.

Journal: American journal of medical genetics. Part A

Published: May 25, 2020

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Journal: Neurobiology of disease

Published: February 18, 2020

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Journal: JIMD reports

Published: March 30, 2019

Vanishing white matter disease in adulthood

Vanishing white matter disease in adulthood

Journal: Der Nervenarzt

Published: February 20, 2019

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.

Journal: Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology

Published: December 19, 2018

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Journal: Journal of medical genetics

Published: May 04, 2018

Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.

Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.

Journal: Oncotarget

Published: September 19, 2017

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia.

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia.

Journal: Journal of pediatric genetics

Published: July 24, 2017

Showing 1-12 of 28

Last Updated: 09/26/2026