Lena Zeltner
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 21 publications
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-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Reply to: "Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The 'Double Cortex Sign'".
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 09, 2023
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: July 19, 2023
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
Journal: EClinicalMedicine
Published: June 13, 2023
Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign".
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 21, 2022
"Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.
Journal: Journal of neurology
Published: March 20, 2022
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Journal: International journal of molecular sciences
Published: January 24, 2022
Cerebrospinal fluid findings in patients with psychotic symptoms-a retrospective analysis.
Journal: Scientific reports
Published: August 14, 2020
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Journal: Scientific reports
Published: May 27, 2020
Last Updated: 09/26/2026