日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

TM2D3基因的双等位基因变异会导致严重的综合征性神经发育障碍,该障碍与内质网和线粒体异常有关。

Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R

Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues

脱蜡人脑组织的定量细胞结构表型分析

Di Meo, Danila; Sorelli, Michele; Ramazzotti, Josephine; Cheli, Franco; Bradley, Samuel; Perego, Laura; Lorenzon, Beatrice; Mazzamuto, Giacomo; Emmi, Aron; Porzionato, Andrea; De Caro, Raffaele; Garbelli, Rita; Biancheri, Dalila; Pelorosso, Cristiana; Conti, Valerio; Guerrini, Renzo; Pavone, Francesco S; Costantini, Irene

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights

SLC35A2相关脑部疾病:遗传学、病理生理学和治疗见解

Risso, Beatrice; Riva, Antonella; Volpedo, Greta; Conti, Valerio; di San Carlo, Clara Tuccari; Zara, Federico; Striano, Pasquale; Falace, Antonio

RICTOR variants are associated with neurodevelopmental disorders

RICTOR基因变异与神经发育障碍相关

Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angélique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W T; Elserafy, Noha; Blair, Edward M; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J; Pfundt, Rolph; Boycott, Kym M; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Moutton, Sébastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B A; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

基于形态计量网络的异常与PCDH19相关发育性和癫痫性脑病中的精神共病和基因表达相关。

Lenge, Matteo; Balestrini, Simona; Napolitano, Antonio; Mei, Davide; Conti, Valerio; Baldassarri, Giulia; Trivisano, Marina; Pellacani, Simona; Macconi, Letizia; Longo, Daniela; Rossi Espagnet, Maria Camilla; Cappelletti, Simona; D'Incerti, Ludovico; Barba, Carmen; Specchio, Nicola; Guerrini, Renzo

Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNP

对于合并重度哮喘和慢性鼻窦炎伴鼻息肉的患者,生物疗法换用度普利尤单抗。

Rosso, Cecilia; De Corso, Eugenio; Conti, Valerio; Nitro, Letizia; Saibene, Alberto Maria; Parazzini, Elena; Rinaldo, Rocco; De Pascalis, Sabrina; Arnone, Flavio; Centanni, Stefano; Montuori, Claudio; D'Auria, Leandro Maria; Felisati, Giovanni; Pipolo, Carlotta

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

发育性和癫痫性脑病:从遗传异质性到表型连续谱

Guerrini, Renzo; Conti, Valerio; Mantegazza, Massimo; Balestrini, Simona; Galanopoulou, Aristea S; Benfenati, Fabio

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

牵张激活离子通道TMEM63B与发育性和癫痫性脑病以及进行性神经退行性疾病相关。

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J V; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

ATP6V1A脑病的表型和遗传谱:溶酶体稳态紊乱

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

对局灶性脑畸形中PI3K-AKT-MTOR变异体的分析揭示了诊断护理的新见解

Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M