Hauke Baumann

Ratzeburger Allee 160
Luebeck, SH 23538, Germany

Last Updated: 09/26/2026

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Found 13 publications

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Journal: Cerebellum (London, England)

Published: April 05, 2023

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Journal: Frontiers in cell and developmental biology

Published: January 07, 2021

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 29, 2020

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 20, 2020

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.

Journal: Parkinsonism & related disorders

Published: May 31, 2020

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.

Journal: Cerebellum (London, England)

Published: May 22, 2019

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Journal: Parkinsonism & related disorders

Published: February 13, 2019

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Journal: American journal of human genetics

Published: January 08, 2019

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

Journal: Parkinsonism & related disorders

Published: November 19, 2018

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.

Journal: Stem cell research

Published: July 30, 2018

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 15, 2017

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Journal: Human molecular genetics

Published: November 14, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026