Andrea Delle Vedove

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Physiology, Orthopaedic Surgery, Perinatal Respiratory Distress +1

Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove et al. · Annals of Neurology · 2017 · 60 citations · Full text

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Mert Karakaya, Markus Storbeck, Eike A. Strathmann et al. · Human Mutation · 2018 · 53 citations

Spinal Muscular Atrophies, Genetics, Genetic Epidemiology +18

Autophagy regulates neuronal excitability by controlling <scp>cAMP</scp> /protein kinase A signaling at the synapse

Melina Overhoff, Frederik Tellkamp, Marianna Tolve et al. · The EMBO Journal · 2022 · 45 citations · Full text

<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Lisa Pavinato, Andrea Delle Vedove, Diana Carli et al. · Brain · 2022 · 37 citations · Full text