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

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

撒丁岛一个三代家族患有钠通道肌强直症,该家族的钠通道α亚基基因(SCN4A)存在c.1775C>T点突变。

Carmen Campanale ,Paola Laghetti ,Ilaria Saltarella ,Concetta Altamura ,Eleonora Canioni ,Emanuele Iosa ,Lorenzo Maggi ,Raffaella Brugnoni ,Paolo Tacconi ,Jean-François Desaphy

Uptake-Dependent and -Independent Effects of Fibroblasts-Derived Extracellular Vesicles on Bone Marrow Endothelial Cells from Patients with Multiple Myeloma: Therapeutic and Clinical Implications

成纤维细胞衍生的细胞外囊泡对多发性骨髓瘤患者骨髓内皮细胞的摄取依赖性和非摄取依赖性影响:治疗和临床意义

Aurelia Lamanuzzi, Ilaria Saltarella, Antonia Reale, Assunta Melaccio, Antonio Giovanni Solimando, Concetta Altamura, Grazia Tamma, Clelia Tiziana Storlazzi, Doron Tolomeo, Vanessa Desantis, Maria Addolorata Mariggiò, Jean-François Desaphy, Andrew Spencer, Angelo Vacca, Benedetta Apollonio, Maria An

ECM Composition Differentially Regulates Intracellular and Extracellular pH in Normal and Cancer Pancreatic Duct Epithelial Cells

ECM 成分对正常和癌症胰腺导管上皮细胞内和细胞外 pH 值的调节存在差异

Daria Di Molfetta, Stefania Cannone, Maria Raffaella Greco, Rosa Caroppo, Francesca Piccapane, Tiago Miguel Amaral Carvalho, Concetta Altamura, Ilaria Saltarella, Diana Tavares Valente, Jean Francois Desaphy, Stephan J Reshkin, Rosa Angela Cardone

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita

尼氟酸对引起先天性肌强直的 ClC-1 氯通道突变体的伴侣活性

Concetta Altamura, Elena Conte, Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Giulia Maria Camerino, Paola Imbrici, Jean-François Desaphy

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

与 KCNA1 新型新生突变相关的无共济失调的肌肉骨骼特征削弱了 Kv1.1 通道的电压敏感性

Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D'adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo1

Bioisosteric Modification of To042: Synthesis and Evaluation of Promising Use-Dependent Inhibitors of Voltage-Gated Sodium Channels

To042 的生物等排修饰:有前景的使用依赖性电压门控钠通道抑制剂的合成与评估

Gualtiero Milani, Maria Maddalena Cavalluzzi, Concetta Altamura, Antonella Santoro, Mariagrazia Perrone, Marilena Muraglia, Nicola Antonio Colabufo, Filomena Corbo, Elisabetta Casalino, Carlo Franchini, Isabella Pisano, Jean-François Desaphy, Antonio Carrieri, Alessia Carocci, Giovanni Lentini

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

俄罗斯贝克尔氏肌强直患者家族中发现 CLCN1 突变的发病机制

Concetta Altamura, Evgeniya A Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L Dadali, Alexander V Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

导致先天性肌强直的新型 ClC-1 突变的多学科研究:理解和治疗离子通道病的范例

Paola Imbrici, Concetta Altamura, Giulia Maria Camerino, Giuseppe Felice Mangiatordi, Elena Conte, Lorenzo Maggi, Raffaella Brugnoni, Kejla Musaraj, Roberta Caloiero, Domenico Alberga, Renè Massimiliano Marsano, Giulia Ricci, Gabriele Siciliano, Orazio Nicolotti, Marina Mora, Pia Bernasconi, Jean-Fr

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

三个患有隐性先天性肌强直症的家族中 CLCN1 突变的临床、分子和功能特征

Simona Portaro, Concetta Altamura, Norma Licata, Giulia M Camerino, Paola Imbrici, Olimpia Musumeci, Carmelo Rodolico, Diana Conte Camerino, Antonio Toscano, Jean-François Desaphy

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

患有隐性先天性肌强直并表现出不同临床表型的患者 ClC-1 突变的功能特征

Jean-François Desaphy, Gianluca Gramegna, Concetta Altamura, Maria Maddalena Dinardo, Paola Imbrici, Alfred L George Jr, Anna Modoni, Mauro Lomonaco, Diana Conte Camerino