Andrea Vedove-Delle
Koeln, NW 50931, Germany
Last Updated: 09/26/2026
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Found 9 publications
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Journal: Cellular and molecular life sciences : CMLS
Published: July 08, 2022
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
Journal: The EMBO journal
Published: February 17, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Journal: Brain : a journal of neurology
Published: February 14, 2022
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Journal: Frontiers in neuroscience
Published: June 06, 2019
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2016
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Journal: Annals of neurology
Published: December 09, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Journal: American journal of human genetics
Published: December 03, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Journal: American journal of human genetics
Published: July 13, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026