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

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.

神经元过度兴奋:揭示拉福拉病海马突触功能障碍的关键。

Costa Cinzia, Bellingacci Laura, Canonichesi Jacopo, Imperatore Valentina, Taddei Anna Aurora, Zafra-Puerta Luis, Iglesias-Cabeza Nerea, Prontera Paolo, Mancini Andrea, Di Filippo Massimiliano, Tozzi Alessandro, Martinello Katiuscia, Barzasi Marta, Gardoni Fabrizio, Sánchez Marina P, Serratosa José M, Parnetti Lucilla, Sciaccaluga Miriam

Modulation of L-Type Calcium Currents by Resveratrol-Induced Myogenesis in C2C12 Cells

白藜芦醇诱导C2C12细胞肌生成对L型钙电流的调节

Biagini, Andrea; Sallicandro, Luana; Covarelli, Jasmine; Gentile, Rosaria; Mirarchi, Alessandra; Farinelli, Alessio; Reali, Gianmarco; Del Bianco, Diletta; Quellari, Paola Tiziana; Gliozheni, Elko; Malvasi, Antonio; Baldini, Giorgio Maria; Trojano, Giuseppe; Tubaro, Claudia; Bearzi, Claudia; Rizzi, Roberto; Arcuri, Cataldo; Prontera, Paolo; Tinelli, Andrea; Fioretti, Bernard

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease

SINEUP介导的内源性α-淀粉酶过表达作为拉福拉病的一种治疗方法

Allegri, Lorenzo; Baldan, Federica; Mio, Catia; Imperatore, Valentina; Costa, Cinzia; Prontera, Paolo; Bisulli, Francesca; Muccioli, Lorenzo; Damante, Giuseppe

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

MBOAT7脑病:神经病学和癫痫病学特征

De la Rosa, Sebastian Ortiz; Rizzo, Valentina; Jauss, Robin-Tobias; Bartolomaeus, Tobias; Escolar, Maria; Bernard, Geneviève; Gavrilova, Ralitza; Ahrens-Nicklas, Rebecca; Lemire, Gabrielle; Boycott, Kym M; Mercimek-Andrews, Saadet; Prontera, Paolo; Costa, Cinzia; Rakic, Bojana; Boerkoel, Cornelius F; Huynh, Stephanie; Huh, Linda; Sherr, Elliott; Argilli, Emanuela; Ortigoza-Escobar, Juan Darío; Casas-Alba, Didac; Nunes, Tania; Koolen, David A; Platzer, Konrad; Khinchi, Marianne S; Gardella, Elena; Fenger, Christina D; Møller, Rikke S; Bayat, Allan

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells

羊水干细胞中神经元/胶质祖细胞的钾电流特征

Sabbatini, Paola; Cipriani, Sabrina; Biagini, Andrea; Sallicandro, Luana; Arcuri, Cataldo; Romani, Rita; Prontera, Paolo; Mirarchi, Alessandra; Gentile, Rosaria; Bianco, Diletta Del; Gliozheni, Elko; Gerli, Sandro; Giardina, Irene; Arduini, Maurizio; Favilli, Alessandro; Malvasi, Antonio; Tinelli, Andrea; Fioretti, Bernard

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies

维甲酸诱导1型和史密斯-马吉尼斯综合征:从遗传学到生物学及可能的治疗策略

Covarelli, Jasmine; Vinciarelli, Elisa; Mirarchi, Alessandra; Prontera, Paolo; Arcuri, Cataldo

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model

乌斯马尼-里亚祖丁综合征:AP1G1基因中一种新型c.196G>A变异的功能表征及以斑马鱼为脊椎动物模型的表型分析

Imperatore, Valentina; Mirarchi, Alessandra; Agolini, Emanuele; Astolfi, Andrea; Barreca, Maria Letizia; Novelli, Antonio; Vinciarelli, Elisa; Ferretti, Sara; Zizioli, Daniela; Borsani, Giuseppe; Arcuri, Cataldo; Prontera, Paolo