Ute Hehr

Franz Josef Strauss Allee 11
Regensburg, BY 93053, Germany

Last Updated: 09/26/2026

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Found 59 publications

Becker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener.

Becker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener.

Journal: Neuromuscular disorders : NMD

Published: November 06, 2025

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.

Journal: Orphanet journal of rare diseases

Published: August 05, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

The Two Faces of Pediatric SCA2.

The Two Faces of Pediatric SCA2.

Journal: European journal of neurology

Published: March 05, 2025

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Journal: Neuropediatrics

Published: August 30, 2024

SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres.

SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres.

Journal: Journal of cellular biochemistry

Published: March 27, 2024

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Journal: PLoS pathogens

Published: February 17, 2024

Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease.

Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: February 15, 2024

Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.

Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.

Journal: Annals of clinical and translational neurology

Published: October 18, 2023

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10.

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10.

Journal: JAAD case reports

Published: April 27, 2023

Heterogenous Disease Course and Long-Term Outcome of Children's Interstitial Lung Disease Related to Filamin A Gene Variants.

Heterogenous Disease Course and Long-Term Outcome of Children's Interstitial Lung Disease Related to Filamin A Gene Variants.

Journal: Annals of the American Thoracic Society

Published: June 29, 2022

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Journal: Frontiers in genetics

Published: May 02, 2022

Showing 1-12 of 59

Last Updated: 09/26/2026