Publications by authors named "Valerio Conti"

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Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex.
Antonio Falace, Léa Corbières, Lucas Silvagnoli, Cristiana Pelorosso, Clara Tuccari di San Carlo, Valerio Conti

Hum Mol Genet· December 2025

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Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues.
Danila Di Meo, Michele Sorelli, Josephine Ramazzotti, Franco Cheli, Samuel Bradley, Valerio Conti

Commun Biol· November 2025

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-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti, Clara Tuccari di San Carlo

Int J Mol Sci· November 2025

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RICTOR variants are associated with neurodevelopmental disorders.
Raphael Carapito, Anne Molitor, Lisa Pavinato, Alaa Skeyni, Magalie Lambert, Valerio Conti

Eur J Hum Genet· July 2025

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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, Valérie Desquiret-Dumas, Méline Wery, Valerio Conti

Am J Hum Genet· July 2025

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Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues.
Danila Di Meo, Michele Sorelli, Josephine Ramazzotti, Franco Cheli, Samuel Bradley, Valerio Conti

bioRxiv· September 2024

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Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNP.
Cecilia Rosso, Eugenio De Corso, Valerio Conti, Letizia Nitro, Alberto Maria Saibene

Eur Arch Otorhinolaryngol· June 2024

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Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.
Rodolfo Tonin, Federica Feo, Silvia Falliano, Laura Giunti, Martino Calamai, Valerio Conti

Stem Cell Res· June 2024

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Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.
Anna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, Valentina Cetica, Davide Mei, Valerio Conti

Epilepsy Res· January 2024

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Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti

Transl Psychiatry· January 2024

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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Valerio Conti

Stem Cell Res· December 2023

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Valerio Conti

Genome Med· November 2023

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Valerio Conti

Am J Hum Genet· August 2023

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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Valerio Conti

Nat Genet· February 2023

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Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Renzo Guerrini, Valerio Conti, Massimo Mantegazza, Simona Balestrini, Aristea S Galanopoulou

Physiol Rev· January 2023

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Valerio Conti

Brain· August 2022

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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms, Valerio Conti

Brain· April 2022

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Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
Anna-Maria Costa, Tommaso Lo Barco, Elisabetta Spezia, Valerio Conti, Laura Roli

J Pers Med· March 2022

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Preliminary Functional Outcomes and Quality of Life after Tongue Reconstruction with the Vastus Lateralis Myofascial Free Flap.
Armando De Virgilio, Andrea Costantino, Raul Pellini, Gerardo Petruzzi, Giuseppe Mercante, Valerio Conti

Facial Plast Surg· October 2021

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Corrigendum to 'Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase [Seizure: European Journal of Epilepsy 86 (2021) 152-154].
Anna Maria Buccoliero, Chiara Caporalini, Mirko Scagnet, Federico Mussa, Flavio Giordano, Valerio Conti

Seizure· October 2021

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Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture.
Irene Costantini, Giacomo Mazzamuto, Matteo Roffilli, Annunziatina Laurino, Filippo Maria Castelli, Valerio Conti

Biomed Opt Express· June 2021

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Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase.
Anna Maria Buccoliero, Chiara Caporalini, Mirko Scagnet, Federico Mussa, Flavio Giordano, Valerio Conti

Seizure· March 2021

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Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial.
Francesca Galardi, Francesca De Luca, Chiara Biagioni, Ilenia Migliaccio, Giuseppe Curigliano, Valerio Conti

Breast Cancer Res· March 2021

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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic Mutations Always a Unilateral Disorder?
Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Valerio Conti

Neurol Genet· February 2021

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Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy.
Varshini Vasudevaraja, Javier Hernaez Rodriguez, Cristiana Pelorosso, Kaicen Zhu, Anna Maria Buccoliero, Valerio Conti

J Neuropathol Exp Neurol· January 2021

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