Hanna Kupper

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 17 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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 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

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Journal: Orphanet journal of rare diseases

Published: January 24, 2025

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 02, 2024

The AP-2 complex interacts with γ-TuRC and regulates the proliferative capacity of neural progenitors.

The AP-2 complex interacts with γ-TuRC and regulates the proliferative capacity of neural progenitors.

Journal: Life science alliance

Published: March 07, 2023

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Journal: Journal of neuromuscular diseases

Published: December 24, 2022

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 13, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: July 24, 2020

Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies.

Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies.

Journal: Frontiers in neurology

Published: December 03, 2019

Nerve ultrasound reference data in children from two to seven years.

Nerve ultrasound reference data in children from two to seven years.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: September 04, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026