Kathrin Grundmann-Hauser

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 22 publications

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.

Journal: Neurogenetics

Published: November 08, 2025

Measuring cerebrovascular reactivity with breath-hold fMRI in patients with Moyamoya angiopathy: MR perfusion based delay correction significantly improves agreement to [15O]water PET.

Measuring cerebrovascular reactivity with breath-hold fMRI in patients with Moyamoya angiopathy: MR perfusion based delay correction significantly improves agreement to [15O]water PET.

Journal: Neuroradiology

Published: March 23, 2025

Preoperative Adult-Type Diffuse Glioma Subtype Prediction with Dynamic Contrast-Enhanced MR Imaging and Diffusion Weighted Imaging in Tumor Cores and Peritumoral Tissue-A Standardized Multicenter Study.

Preoperative Adult-Type Diffuse Glioma Subtype Prediction with Dynamic Contrast-Enhanced MR Imaging and Diffusion Weighted Imaging in Tumor Cores and Peritumoral Tissue-A Standardized Multicenter Study.

Journal: Diagnostics (Basel, Switzerland)

Published: February 01, 2025

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation

Published: July 08, 2024

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

Journal: Frontiers in immunology

Published: June 23, 2024

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia.

Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia.

Journal: Neurobiology of disease

Published: January 17, 2024

Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.

Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.

Journal: Neurobiology of disease

Published: December 12, 2022

Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.

Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.

Journal: Science advances

Published: November 23, 2022

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

Journal: Brain : a journal of neurology

Published: March 28, 2021

Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.

Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.

Journal: Movement disorders clinical practice

Published: February 05, 2021

The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.

The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.

Journal: Neurobiology of disease

Published: January 07, 2021

Showing 1-12 of 22

Last Updated: 09/26/2026