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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关SPG10和ALS谱系疾病相关的蛋白质

Dulski, Jarosław; Boddapati, Arun K; Risi, Barbara; Iruzubieta, Pablo; Orlacchio, Antonio; Fernández-Torrón, Roberto; Castillo-Triviño, Tamara; López de Munain, Adolfo; Vucic, Steve; Padovani, Alessandro; Kaat, Laura Donker; Barakat, Tahsin Stefan; Petrucelli, Leonard; Prudencio, Mercedes; Landers, John E; Weishaupt, Jochen H; Prokop, Andreas; Filosto, Massimiliano; Wszolek, Zbigniew K; Pant, Devesh C

Clinical utility and prospective of TMS-EEG: Updated review from an international expert group

TMS-EEG的临床应用及前景:国际专家组的最新综述

Ziemann, Ulf; Bai, Yang; Baumer, Fiona M; Beck, Mikkel M; Belardinelli, Paolo; Belvisi, Daniele; Bender, Stephan; Bergmann, Til Ole; Bortoletto, Marta; Casarotto, Silvia; Casula, Elias; Chaves, Arthur R; de Andrade, Daniel Ciampi; Conte, Antonella; Daskalakis, Zafiris J; Farzan, Faranak; Ferrarelli, Fabio; Fitzgerald, Paul B; Gordon, Pedro C; Grefkes, Christian; Harquel, Sylvain; Hernandez-Pavon, Julio C; Hill, Aron T; Hoy, Kate E; Hummel, Friedhelm C; Julkunen, Petro; Kallioniemi, Elisa; Keller, Corey J; Kimiskidis, Vasilios K; Kirkovski, Melissa; Koch, Giacomo; Leodori, Giorgio; Lioumis, Pantelis; Määttä, Sara; Maidan, Inbal; Massimini, Marcello; Mengel, Annerose; Metsomaa, Johanna; Miniussi, Carlo; Mutanen, Tuomas P; Noda, Yoshihiro; Ozdemir, Recep A; Raffin, Estelle; Rocchi, Lorenzo; Rogasch, Nigel C; Rosanova, Mario; Santarnecchi, Emiliano; Sarasso, Simone; Schabrun, Siobhan M; Shafi, Mouhsin M; Siebner, Hartwig R; Tolner, Else A; Tomasevic, Leo; Tremblay, Sara; Tscherpel, Caroline; Veniero, Domenica; Versace, Viviana; Voineskos, Daphne; Vucic, Steve; Zangen, Abraham; Zrenner, Christoph; Ilmoniemi, Risto J

Standardized Definition of Progression Independent of Relapse Activity (PIRA) in Relapsing-Remitting Multiple Sclerosis

复发缓解型多发性硬化症中与复发活动无关的进展标准化定义 (PIRA)

Müller, Jannis; Sharmin, Sifat; Lorscheider, Johannes; Ozakbas, Serkan; Karabudak, Rana; Horakova, Dana; Weinstock-Guttman, Bianca; Shaygannejad, Vahid; Etemadifar, Masoud; Alroughani, Raed; Patti, Francesco; Eichau, Sara; Prat, Alexandre; Lugaresi, Alessandra; Tomassini, Valentina; Kermode, Allan G; Amato, Maria Pia; Turkoglu, Recai; Altintas, Ayse; Buzzard, Katherine; Soysal, Aysun; van der Walt, Anneke; Butzkueven, Helmut; Blanco, Yolanda; Gerlach, Oliver; Khoury, Samia J; Barnett, Michael; John, Nevin; Lechner-Scott, Jeannette; Foschi, Matteo; Surcinelli, Andrea; van Pesch, Vincent; Prevost, Julie; Sa, Maria Jose; Maimone, Davide; D'hooghe, Marie; Hughes, Stella; Hodgkinson, Suzanne; McGuigan, Chris; Cartechini, Elisabetta; Taylor, Bruce; Spitaleri, Daniele; Slee, Mark; McCombe, Pamela; Yamout, Bassem; Benkert, Pascal; Kuhle, Jens; Kappos, Ludwig; Roos, Izanne; Kalincik, Tomas; Havrdova, Eva Kubala; Girard, Marc; Duquette, Pierre; Fabis-Pedrini, Marzena; Carroll, William M; Skibina, Olga; Gouider, Riadh; Mrabet, Saloua; Ramo-Tello, Cristina; Solaro, Claudio; Habek, Mario; Van Wijmeersch, Bart; Ampapa, Radek; Macdonell, Richard; Oreja-Guevara, Celia; de Gans, Koen; Laureys, Guy; Oh, Jiwon; Garber, Justin; Gray, Orla; Agüera-Morales, Eduardo; Sanchez-Menoyo, Jose Luis; Castillo-Triviño, Tamara; Grigoriadis, Nikolaos; Petersen, Thor; Hardy, Todd A; Vucic, Steve; Reddel, Stephen; Ramanathan, Sudarshini; Al-Asmi, Abdullah; Simu, Mihaela; Baghbanian, Seyed Mohammad; Poehlau, Dieter; Al-Harbi, Talal; Rojas, Juan Ignacio; Deri, Norma; Lalive, Patrice; Cambron, Melissa; Csepany, Tunde; Shuey, Neil; Willekens, Barbara; Shaw, Cameron; Decoo, Danny; Massey, Jennifer; Yaldizli, Özgür; Derfuss, Tobias; Granziera, Cristina

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Pan-Asian consortium for treatment and research in ALS (PACTALS) guidelines for management of amyotrophic lateral sclerosis

泛亚洲肌萎缩侧索硬化症治疗与研究联盟(PACTALS)肌萎缩侧索硬化症管理指南

Vucic, Steve; Shahrizaila, Nortina; Kano, Osamu; Menon, Parvathi; Agustini, Sheila; Kulkantrakorn, Kongkiat; Atchayaram, Nalini; Lee, Yi-Chung; Prado, Mario B Jr; Ng, Kay W P; Chai, Josiah; Son, Bugyeong; Talman, Paul; Nghia, Hoang Tien Trong; Tuan, Le Tu Quoc; Shibuya, Kazumoto; Izumi, Yuishin; Atsuta, Naoki; Henderson, Robert D; Cui, Liying; Liu, Mingsheng; Ohnmar, Ohnmar; Rabani, Remli; Hong, Yoon-Ho; Sung, Jung-Joon; Fan, Dongsheng; Raykar, Veena; Kuwabara, Satoshi; Kim, Seung Hyun; Sobue, Gen; Kiernan, Matthew C

Cortical inexcitability in ALS: correlating a clinical phenotype

肌萎缩侧索硬化症中的皮质兴奋性降低:与临床表型的相关性

Pavey, Nathan; Hannaford, Andrew; Higashihara, Mana; van den Bos, Mehdi; Geevasinga, Nimeshan; Vucic, Steve; Menon, Parvathi

Longitudinal assessment of cortical motor function in amyotrophic lateral sclerosis

肌萎缩侧索硬化症皮质运动功能的纵向评估

Krishnan, Dhayalen; Talbot, Dayna-Lee; Ashhurst, Jasmine F; Park, Susanna B; Vucic, Steve; Timmins, Hannah C; Kiernan, Matthew C

Amyotrophic lateral sclerosis established as a multistep process across phenotypes

肌萎缩侧索硬化症被证实是一个跨表型的多步骤过程

Ziser, Laura; van Eijk, Ruben P A; Kiernan, Matthew C; McRae, Allan; Henderson, Robert D; Schultz, David; Needham, Merrilee; Mathers, Susan; McCombe, Pam; Talman, Paul; Vucic, Steve

Utility of Cortical Inhibitory and Facilitatory Neuronal Circuits in Amyotrophic Lateral Sclerosis Diagnosis

皮质抑制性和促进性神经回路在肌萎缩侧索硬化症诊断中的应用

Santos Silva, Cláudia; Pavey, Nathan; Calma, Aicee Dawn; Kiernan, Matthew C; Menon, Parvathi; van den Bos, Mehdi; Vucic, Steve