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

ATP6V1A is required for synaptic rearrangements and plasticity in murine hippocampal neurons

ATP6V1A 是小鼠海马神经元突触重排和可塑性所必需的

Alessandro Esposito, Sara Pepe, Maria Sabina Cerullo, Katia Cortese, Hanako Tsushima Semini, Silvia Giovedì, Renzo Guerrini, Fabio Benfenati, Antonio Falace, Anna Fassio

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

显性ARF3变异体破坏高尔基体完整性,导致神经发育障碍,这种障碍在斑马鱼中也有所体现。

Giulia Fasano # ,Valentina Muto # ,Francesca Clementina Radio # ,Martina Venditti ,Niloufar Mosaddeghzadeh ,Simona Coppola ,Graziamaria Paradisi ,Erika Zara ,Farhad Bazgir ,Alban Ziegler ,Giovanni Chillemi ,Lucia Bertuccini ,Antonella Tinari ,Annalisa Vetro ,Francesca Pantaleoni ,Simone Pizzi ,Libenzio Adrian Conti ,Stefania Petrini ,Alessandro Bruselles ,Ingrid Guarnetti Prandi ,Cecilia Mancini ,Balasubramanian Chandramouli ,Magalie Barth ,Céline Bris ,Donatella Milani ,Angelo Selicorni ,Marina Macchiaiolo ,Michaela V Gonfiantini ,Andrea Bartuli ,Riccardo Mariani ,Cynthia J Curry ,Renzo Guerrini ,Anne Slavotinek ,Maria Iascone ,Bruno Dallapiccola ,Mohammad Reza Ahmadian ,Antonella Lauri ,Marco Tartaglia

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

利用果蝇对自闭症新生突变进行功能筛选,可以发现有害突变,并有助于发现罕见的神经发育疾病。

Paul C Marcogliese ,Samantha L Deal ,Jonathan Andrews ,J Michael Harnish ,V Hemanjani Bhavana ,Hillary K Graves ,Sharayu Jangam ,Xi Luo ,Ning Liu ,Danqing Bei ,Yu-Hsin Chao ,Brooke Hull ,Pei-Tseng Lee ,Hongling Pan ,Pradnya Bhadane ,Mei-Chu Huang ,Colleen M Longley ,Hsiao-Tuan Chao ,Hyung-Lok Chung ,Nele A Haelterman ,Oguz Kanca ,Sathiya N Manivannan ,Linda Z Rossetti ,Ryan J German ,Amanda Gerard ,Eva Maria Christina Schwaibold ,Sarah Fehr ,Renzo Guerrini ,Annalisa Vetro ,Eleina England ,Chaya N Murali ,Tahsin Stefan Barakat ,Marieke F van Dooren ,Martina Wilke ,Marjon van Slegtenhorst ,Gaetan Lesca ,Isabelle Sabatier ,Nicolas Chatron ,Catherine A Brownstein ,Jill A Madden ,Pankaj B Agrawal ,Boris Keren ,Thomas Courtin ,Laurence Perrin ,Melanie Brugger ,Timo Roser ,Steffen Leiz ,Frederic Tran Mau-Them ,Julian Delanne ,Elena Sukarova-Angelovska ,Slavica Trajkova ,Erik Rosenhahn ,Vincent Strehlow ,Konrad Platzer ,Roberto Keller ,Lisa Pavinato ,Alfredo Brusco ,Jill A Rosenfeld ,Ronit Marom ,Michael F Wangler ,Shinya Yamamoto

Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation

先天性糖基化障碍中 IGF-1 激素原 N-糖基化缺陷和 IGF-1 受体信号激活降低

Laura Di Patria #, Giosuè Annibalini #, Amelia Morrone, Lorenzo Ferri, Roberta Saltarelli, Luca Galluzzi, Aurora Diotallevi, Matteo Bocconcelli, Maria Alice Donati, Rita Barone, Renzo Guerrini, Jaak Jaeken, Vilberto Stocchi, Elena Barbieri

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

对新诊断癫痫儿童血浆生长素释放肽和脱酰基生长素释放肽水平的前瞻性评估:全身性癫痫患者生长素释放肽与脱酰基生长素释放肽比率降低的证据

Anna-Maria Costa, Tommaso Lo Barco, Elisabetta Spezia, Valerio Conti, Laura Roli, Lorenza Marini, Sara Minghetti, Elisa Caramaschi, Laura Pietrangelo, Luca Pecoraro, Fabio D'Achille, Paola Accorsi, Tommaso Trenti, Federico Melani, Carla Marini, Renzo Guerrini, Francesca Darra, Patrizia Bergonzini, G

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Epi-cblC 遗传性维生素 B12 细胞内代谢障碍中的 TESK2 和 MMACHC 启动子表观突变

Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K Chung, Can Ficicioglu, François Feillet, D Sean Froese, Matthias R Baumgartner, Jean

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

细胞外LGALS3BP调控神经祖细胞的位置,并与人类皮层复杂性相关。

Christina Kyrousi ,Adam C O'Neill ,Agnieska Brazovskaja ,Zhisong He ,Pavel Kielkowski ,Laure Coquand ,Rossella Di Giaimo ,Pierpaolo D' Andrea ,Alexander Belka ,Andrea Forero Echeverry ,Davide Mei ,Matteo Lenge ,Cristiana Cruceanu ,Isabel Y Buchsbaum ,Shahryar Khattak ,Guimiot Fabien ,Elisabeth Binder ,Frances Elmslie ,Renzo Guerrini ,Alexandre D Baffet ,Stephan A Sieber ,Barbara Treutlein ,Stephen P Robertson ,Silvia Cappello

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

STK结构域中的致病性MAST3变异与癫痫相关

Egidio Spinelli # ,Kyle R Christensen # ,Emily Bryant ,Amy Schneider ,Jennifer Rakotomamonjy ,Alison M Muir ,Jessica Giannelli ,Rebecca O Littlejohn ,Elizabeth R Roeder ,Berkley Schmidt ,William G Wilson ,Elysa J Marco ,Kazuhiro Iwama ,Satoko Kumada ,Tiziana Pisano ,Carmen Barba ,Annalisa Vetro ,Eva H Brilstra ,Richard H van Jaarsveld ,Naomichi Matsumoto ,Hadassa Goldberg-Stern ,Patrick W Carney ,P Ian Andrews ,Christelle M El Achkar ,Sam Berkovic ,Lance H Rodan ,Renzo Guerrini ,Ingrid E Scheffer ,Heather C Mefford ,Simone Mandelstam ,Linda Laux ,John J Millichap ,Alicia Guemez-Gamboa ,Angus C Nairn ,Gemma L Carvill

Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture

大规模细胞分辨率体积映射可以对人类大脑细胞结构进行分层研究

Irene Costantini, Giacomo Mazzamuto, Matteo Roffilli, Annunziatina Laurino, Filippo Maria Castelli, Mattia Neri, Giovanni Lughi, Andrea Simonetto, Erica Lazzeri, Luca Pesce, Christophe Destrieux, Ludovico Silvestri, Valerio Conti, Renzo Guerrini, Francesco Saverio Pavone

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

豹状视网膜病变和严重早发性门脉高压扩大了 KARS1 相关综合征的表型:病例报告

Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio