Jurgen-christoph C. Retzow-Von Kleist

Kerpener Str. 62
Koeln, NW 50937, Germany

Last Updated: 09/26/2026

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Found 15 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

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Journal: Brain : a journal of neurology

Published: December 29, 2023

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

Journal: Neuropediatrics

Published: October 17, 2023

Bezafibrate Reduces Elevated Hepatic Fumarate in Insulin-Deficient Mice.

Bezafibrate Reduces Elevated Hepatic Fumarate in Insulin-Deficient Mice.

Journal: Biomedicines

Published: February 05, 2022

Infliximab is an appropriate second-line therapy in infants with steroid refractory pyoderma gangrenosum.

Infliximab is an appropriate second-line therapy in infants with steroid refractory pyoderma gangrenosum.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: October 29, 2021

Alice in the digital wonderland-pediatric teaching during the COVID-19 pandemic

Alice in the digital wonderland-pediatric teaching during the COVID-19 pandemic

Journal: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde

Published: December 07, 2020

Impaired Insulin Signaling is Associated with Hepatic Mitochondrial Dysfunction in IR+/--IRS-1+/- Double Heterozygous (IR-IRS1dh) Mice.

Impaired Insulin Signaling is Associated with Hepatic Mitochondrial Dysfunction in IR+/--IRS-1+/- Double Heterozygous (IR-IRS1dh) Mice.

Journal: International journal of molecular sciences

Published: April 28, 2017

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Journal: Muscle & nerve

Published: February 07, 2017

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.

Journal: Molecular and cellular pediatrics

Published: December 30, 2015

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal: Journal of inherited metabolic disease

Published: March 11, 2015

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.

Journal: Cell metabolism

Published: September 27, 2014

Negative regulation of mitochondrial transcription by mitochondrial topoisomerase I.

Negative regulation of mitochondrial transcription by mitochondrial topoisomerase I.

Journal: Nucleic acids research

Published: August 29, 2013

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Last Updated: 09/26/2026