Nienke H. Van Os
Nijmegen, GE 6525GA, Netherlands
Last Updated: 09/26/2026
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Found 20 publications
Plasma Copper and Zinc Levels in Ataxia-Telangiectasia.
Journal: International journal of molecular sciences
Published: April 29, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
The ATTeST trial in ataxia telangiectasia: some concerns.
Journal: The Lancet. Neurology
Published: October 10, 2024
Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective.
Journal: Journal of Huntington's disease
Published: July 05, 2024
Biomarkers in Ataxia-Telangiectasia: a Systematic Review.
Journal: Journal of neurology
Published: May 15, 2024
Preferences for genetic interventions for SCA and Huntington's disease: results of a discrete choice experiment among patients.
Journal: Orphanet journal of rare diseases
Published: November 08, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2023
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
Journal: The Journal of allergy and clinical immunology
Published: August 10, 2023
Quality of life in ataxia-telangiectasia.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 01, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 02, 2022
Title Not Found
Journal: Tijdschrift voor bedrijfs- en verzekeringsgeneeskunde
Published: September 06, 2021
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 18, 2021
Last Updated: 09/26/2026