Valerio Conti
Valerio Conti
Laboratorio di Neurobiologia, AOU Meyer
Verified email at meyer.it
Title
Cited by
Cited by
Year
A versatile clearing agent for multi-modal brain imaging
I Costantini, JP Ghobril, AP Di Giovanna, ALA Mascaro, L Silvestri, ...
Scientific reports 5 (1), 1-9, 2015
2152015
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ...
JAMA neurology 73 (7), 836-845, 2016
1682016
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
C Marini, V Conti, D Mei, D Battaglia, D Lettori, E Losito, G Bruccini, ...
Neurology 79 (21), 2109-2114, 2012
1142012
Genetic basis of brain malformations
E Parrini, V Conti, WB Dobyns, R Guerrini
Molecular syndromology 7 (4), 220-233, 2016
1112016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
962016
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
RS Mĝller, S Weckhuysen, M Chipaux, E Marsan, V Taly, EM Bebin, ...
Neurology Genetics 2 (6), 2016
812016
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ...
Brain 136 (11), 3378-3394, 2013
772013
The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ...
Genetics in Medicine 21 (2), 398-408, 2019
762019
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ...
The Lancet Neurology 14 (12), 1182-1195, 2015
682015
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
D Alcantara, AE Timms, K Gripp, L Baker, K Park, S Collins, C Cheng, ...
Brain 140 (10), 2610-2622, 2017
642017
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ...
Genetics in Medicine 20 (11), 1354-1364, 2018
592018
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
M Marchese, V Conti, G Valvo, F Moro, F Muratori, R Tancredi, ...
BMC medical genetics 15 (1), 1-7, 2014
562014
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene
V Conti, M Pantaleo, C Barba, G Baroni, D Mei, AM Buccoliero, S Giglio, ...
Clinical genetics 88 (3), 241-247, 2015
532015
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings
V Musante, E Neri, M Feligioni, A Puliti, M Pedrazzi, V Conti, C Usai, ...
Neuropharmacology 55 (4), 474-482, 2008
532008
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1)
V Conti, A Aghaie, M Cilli, N Martin, G Caridi, L Musante, G Candiano, ...
International journal of molecular medicine 18 (4), 593-600, 2006
532006
Expression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell division
B Behnam, MH Modarressi, V Conti, KE Taylor, A Puliti, J Wolfe
Biochemical and biophysical research communications 344 (4), 1102-1110, 2006
502006
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
A Fassio, A Esposito, M Kato, H Saitsu, D Mei, C Marini, V Conti, ...
Brain 141 (6), 1703-1718, 2018
412018
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
V Conti, P Aracri, L Chiti, S Brusco, F Mari, C Marini, M Albanese, ...
Neurology 84 (15), 1520-1528, 2015
362015
Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1
A Puliti, PIA Rossi, G Caridi, A Corbelli, M Ikehata, S Armelloni, M Li, ...
The American journal of pathology 178 (3), 1257-1269, 2011
302011
Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia
K Kobow, M Ziemann, H Kaipananickal, I Khurana, A Mühlebner, ...
Epilepsia 60 (6), 1091-1103, 2019
252019
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