Claudia Schob
Hamburg, HH 20246, Germany
Last Updated: 09/26/2026
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Found 11 publications
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Journal: American journal of human genetics
Published: November 09, 2023
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Journal: Annals of neurology
Published: May 25, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Journal: Human molecular genetics
Published: February 26, 2021
Germline AGO2 mutations impair RNA interference and human neurological development.
Journal: Nature communications
Published: December 28, 2019
Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.
Journal: Translational psychiatry
Published: March 06, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: January 06, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: August 17, 2017
Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: January 08, 2016
The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons.
Journal: Journal of neurochemistry
Published: July 12, 2012
Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.
Journal: The Journal of biological chemistry
Published: December 01, 2011
Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.
Journal: Scientific reports
Published: November 23, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026