Natalie Deininger
Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany
Tuebingen, BW 72076, Germany
Last Updated: 09/26/2026
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Found 15 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 28, 2024
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
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Journal: Clinical genetics
Published: October 29, 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
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 05, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 13, 2021
A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 25, 2021
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Journal: Parkinsonism & related disorders
Published: June 09, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Journal: Brain : a journal of neurology
Published: March 12, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2020
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: September 22, 2020
Last Updated: 09/26/2026