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

Repeat expansions in RFC1 gene in refractory chronic cough

难治性慢性咳嗽中RFC1基因的重复扩增

Hirons, Barnaby; Cho, Peter S P; Rhatigan, Katie; Shaw, Joe; Curro, Riccardo; Rugginini, Bianca; Dominik, Natalia; Turner, Richard D; Mackay, Ewan; Hull, James H; Abubakar-Waziri, Hisham; Kesavan, Harini; Jolley, Caroline J; Hadden, Robert D; Cortese, Andrea; Birring, Surinder S

Cough Reflex Hypersensitivity in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome-associated Chronic Cough

小脑性共济失调伴神经病变和前庭反射消失综合征相关慢性咳嗽中的咳嗽反射过敏

Hirons, Barnaby; Cho, Peter S P; Curro, Riccardo; Rugginini, Bianca; Turner, Richard D; Hull, James H; Jolley, Caroline J; Hadden, Robert D; Cortese, Andrea; Birring, Surinder S

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

重复序列扩增大小在预测RFC1疾病发病年龄和严重程度中的作用

Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H; Parolin Schnekenberg, Ricardo; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; Lòpez de Munaìn, Adolfo; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinéad M; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M; Houlden, Henry; Cortese, Andrea

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

血清神经丝轻链在复制因子复合物亚基 1 CANVAS 和疾病谱中的作用

Quartesan, Ilaria; Vegezzi, Elisa; Currò, Riccardo; Heslegrave, Amanda; Pisciotta, Chiara; Iruzubieta, Pablo; Salvalaggio, Alessandro; Fernández-Eulate, Gorka; Dominik, Natalia; Rugginini, Bianca; Manini, Arianna; Abati, Elena; Facchini, Stefano; Manso, Katarina; Albajar, Ines; Laban, Rhiannon; Rossor, Alexander M; Pichiecchio, Anna; Cosentino, Giuseppe; Saveri, Paola; Salsano, Ettore; Andreetta, Francesca; Valente, Enza M; Zetterberg, Henrik; Giunti, Paola; Stojkovic, Tanya; Briani, Chiara; López de Munain, Adolfo; Pareyson, Davide; Reilly, Mary M; Houlden, Henry; Tassorelli, Cristina; Cortese, Andrea

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

光学基因组图谱技术能够检测和精确测定RFC1重复序列扩增的大小

Facchini, Stefano; Dominik, Natalia; Manini, Arianna; Efthymiou, Stephanie; Currò, Riccardo; Rugginini, Bianca; Vegezzi, Elisa; Quartesan, Ilaria; Perrone, Benedetta; Kutty, Shahedah Koya; Galassi Deforie, Valentina; Schnekenberg, Ricardo P; Abati, Elena; Pichiecchio, Anna; Valente, Enza Maria; Tassorelli, Cristina; Reilly, Mary M; Houlden, Henry; Bugiardini, Enrico; Cortese, Andrea