Andrea Delle Vedove - Concepedia

Author

Andrea Delle Vedove

Also Known As

Andrea Delle Vedove, Andrea Delle Vedove, Vedove, Andrea Delle

Publications

381

Citations

H-Index

Concepts

All Affiliations

Andrea Delle Vedove is an author at University of Cologne specializing in physiology, neuromuscular pathology, and genomics.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	53
2	Neurology	1	1	53
3	Orthopaedics	1	1	94
4	Pathology	1	1	53
5	Genetic Epidemiology	1	1	53

Andrea Delle Vedove

Publications

338

Citations

H-Index

Page 1

	Year	Citations
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis Andrea Delle Vedove, Markus Storbeck, Raoul Heller, The American Journal of Human Genetics PhysiologyOrthopaedic SurgeryPerinatal Respiratory DistressBiallelic Loss	2016	94
Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Annals of Neurology	2017	60
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies Mert Karakaya, Markus Storbeck, Eike A. Strathmann, Human Mutation Spinal Muscular AtrophiesGeneticsGenetic EpidemiologyPathologyGene Characterization	2018	53
Autophagy regulates neuronal excitability by controlling <scp>cAMP</scp> /protein kinase A signaling at the synapse Melina Overhoff, Frederik Tellkamp, Marianna Tolve, The EMBO Journal	2022	45
<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Brain	2022	37
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 Tobias Eisenberger, Nataliya Di Donato, Christian Decker, Genetics in Medicine	2017	32
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Cellular and Molecular Life Sciences	2022	17

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