Katharina Vill

Dr. Von Haunersches Kinderspital
Munich, BY 80337, Germany

Last Updated: 09/26/2026

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Found 95 publications

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Journal: Journal of neuromuscular diseases

Published: August 29, 2026

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects.

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects.

Journal: Journal of neuromuscular diseases

Published: August 27, 2026

Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.

Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.

Journal: Journal of neuromuscular diseases

Published: July 03, 2026

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.

Journal: Frontiers in endocrinology

Published: January 27, 2026

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Journal: Journal of neuromuscular diseases

Published: November 24, 2025

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Journal: Annals of neurology

Published: September 24, 2025

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.

Journal: Brain : a journal of neurology

Published: September 01, 2025

Quality of Life of Children and Adolescents with Epilepsy Compared to Their Healthy Peers: A Cross-Sectional Study.

Quality of Life of Children and Adolescents with Epilepsy Compared to Their Healthy Peers: A Cross-Sectional Study.

Journal: Neuropediatrics

Published: August 19, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: November 22, 2024

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 07, 2024

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Journal: Brain : a journal of neurology

Published: October 04, 2024

Showing 1-12 of 95

Last Updated: 09/26/2026