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

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

TNBS colitis induces architectural changes and alpha-synuclein overexpression in mouse distal colon: A morphological study

TNBS 结肠炎诱导小鼠远端结肠结构变化和 α-突触核蛋白过表达:形态学研究

Arianna Casini #, Giorgio Vivacqua #, Ludovica Ceci, Stefano Leone, Rosa Vaccaro, Marco Tagliafierro, Filippo Maria Bassi, Sara Vitale, Emanuele Bocci, Luigi Pannarale, Simone Carotti, Antonio Franchitto, Patrizia Mancini, Roberta Sferra, Antonella Vetuschi, Giovanni Latella, Paolo Onori, Eugenio Ga

Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons

解读微管蛋白语言:神经元中微管蛋白密码的分子决定因素和读出机制

Zocchi, Riccardo; Compagnucci, Claudia; Bertini, Enrico; Sferra, Antonella

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

TUBA1A基因中一种新的功能缺失突变会损害微管蛋白的稳定性和蛋白质稳态,导致痉挛性截瘫和共济失调。

Zocchi, Riccardo; Bellacchio, Emanuele; Piccione, Michela; Scardigli, Raffaella; D'Oria, Valentina; Petrini, Stefania; Baranano, Kristin; Bertini, Enrico; Sferra, Antonella

Editorial: Tubulinopathies: fundamental and clinical challenges

社论:肾小管蛋白病:基础和临床挑战

Sferra, Antonella; Bertini, Enrico; Haase, Georg

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

CYB5R3相关隐性遗传性高铁血红蛋白血症II型的神经系统和神经影像学特征

Nicita, Francesco; Sabatini, Letizia; Alesi, Viola; Lucignani, Giulia; Sallicandro, Ester; Sferra, Antonella; Bertini, Enrico; Zanni, Ginevra; Palumbo, Giuseppe

The Natural Carotenoid Crocetin and the Synthetic Tellurium Compound AS101 Protect the Ovary against Cyclophosphamide by Modulating SIRT1 and Mitochondrial Markers

天然类胡萝卜素藏红花酸和合成碲化合物 AS101 通过调节 SIRT1 和线粒体标志物保护卵巢免受环磷酰胺的侵害

Giovanna Di Emidio, Giulia Rossi, Isabelle Bonomo, Gonzalo Luis Alonso, Roberta Sferra, Antonella Vetuschi, Paolo Giovanni Artini, Alessandro Provenzani, Stefano Falone, Gaspare Carta, Anna Maria D'Alessandro, Fernanda Amicarelli, Carla Tatone

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

TBCE基因突变导致早发性进行性脑病伴远端脊髓性肌萎缩

Sferra, Antonella; Baillat, Gilbert; Rizza, Teresa; Barresi, Sabina; Flex, Elisabetta; Tasca, Giorgio; D'Amico, Adele; Bellacchio, Emanuele; Ciolfi, Andrea; Caputo, Viviana; Cecchetti, Serena; Torella, Annalaura; Zanni, Ginevra; Diodato, Daria; Piermarini, Emanuela; Niceta, Marcello; Coppola, Antonietta; Tedeschi, Enrico; Martinelli, Diego; Dionisi-Vici, Carlo; Nigro, Vincenzo; Dallapiccola, Bruno; Compagnucci, Claudia; Tartaglia, Marco; Haase, Georg; Bertini, Enrico

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

TBCD 基因的双等位基因突变编码微管折叠辅因子 D,扰乱微管动力学并导致早发性脑病

Flex Elisabetta, Niceta Marcello, Cecchetti Serena, Thiffault Isabelle, Au Margaret G, Capuano Alessandro, Piermarini Emanuela, Ivanova Anna A, Francis Joshua W, Chillemi Giovanni, Chandramouli Balasubramanian, Carpentieri Giovanna, Haaxma Charlotte A, Ciolfi Andrea, Pizzi Simone, Douglas Ganka V, Levine Kara, Sferra Antonella, Dentici Maria Lisa, Pfundt Rolph R, Le Pichon Jean-Baptiste, Farrow Emily, Baas Frank, Piemonte Fiorella, Dallapiccola Bruno, Graham John M Jr, Saunders Carol J, Bertini Enrico, Kahn Richard A, Koolen David A, Tartaglia Marco