Johannes Koch

Salzburg, 5020, Austria

Last Updated: 09/26/2026

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Found 39 publications

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

Journal: Epilepsia

Published: April 29, 2025

Treatment of a Large Hemorrhagic Midbrain Cavernoma Within the Silvian Aqueduct in a Five-Year-Old Girl-A Case Report.

Treatment of a Large Hemorrhagic Midbrain Cavernoma Within the Silvian Aqueduct in a Five-Year-Old Girl-A Case Report.

Journal: Children (Basel, Switzerland)

Published: March 17, 2025

Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study.

Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study.

Journal: Seizure

Published: February 18, 2025

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Journal: Epilepsia

Published: October 13, 2023

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Journal: Brain : a journal of neurology

Published: August 09, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Journal: Annals of neurology

Published: August 02, 2022

Association Between Grounds for Legal Commitment to a Psychiatric Facility and Assessment of Fitness to Drive: An Orientating Analysis of the Relevance of Driving-Related Medicine to the National Health Service and Other Implicated Actors

Association Between Grounds for Legal Commitment to a Psychiatric Facility and Assessment of Fitness to Drive: An Orientating Analysis of the Relevance of Driving-Related Medicine to the National Health Service and Other Implicated Actors

Journal: Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany))

Published: March 23, 2022

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: March 03, 2022

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Journal: Annals of neurology

Published: August 23, 2021

Showing 1-12 of 39

Last Updated: 09/26/2026