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

Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT

虚拟 CMT 婴幼儿量表 (vCMTInfS) 的可行性、有效性和可靠性:对患有 CMT 的婴幼儿进行远程评估

Shy, Rosemary; Dragon, Amanda; Feely, Shawna M E; Donlevy, Gabrielle; Cornett, Kayla; Mandarakas, Melissa; Estilow, Tim; Burns, Joshua; Shy, Michael E

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

下肢肌肉MRI脂肪分数是CMT X1、1B和2A型的一种敏感的预后指标。

Doherty, Carolynne M; Morrow, Jasper M; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J; Grider, Tiffany; Feely, Shawna M E; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; McDowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M; Shah, Sachit; Laura, Matilde; Yousry, Tarek A; Thedens, Daniel; Thornton, John; Shy, Michael E; Reilly, Mary M

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

由GJB1变异引起的夏科-马里-图斯病CMTX1的遗传分析和自然史

Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

先天性痛觉缺失和遗传性感觉及自主神经病变的遗传图谱

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson Junior; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgül, Behiye S; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Jörg B; Wood, John N; Cox, James J; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C; Shy, Michael; Bennett, David L; Baets, Jonathan; Hübner, Christian A; Leipold, Enrico; Züchner, Stephan; Elbracht, Miriam; Çakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C Geoffrey; Reilly, Mary M; Kurth, Ingo

Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure

验证家长代理的儿童夏科-马里-图斯病生活质量结局指标

Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna M E; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; Estilow, Timothy; Shy, Michael E; Ramchandren, Sindhu

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

对携带SPTLC1致病变异的早发性肌萎缩侧索硬化症患者进行30年随访

Ajjarapu, Aparna; Feely, Shawna M E; Shy, Michael E; Trout, Christina; Zuchner, Stephan; Moore, Steven A; Mathews, Katherine D

Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure

儿童夏科-马里-图斯病生活质量结局指标的开发与验证

Ramchandren, Sindhu; Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna M E; Burns, Joshua; Reilly, Mary M; Estilow, Timothy; Shy, Michael E

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

夏科-马里-图斯病2A型自然史:一项大型国际多中心研究

Pipis, Menelaos; Feely, Shawna M E; Polke, James M; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R; Laura, Matilde; Morrow, Jasper M; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E; Acsadi, Gyula; Yum, Sabrina W; Lewis, Richard A; Finkel, Richard S; Herrmann, David N; Day, John W; Li, Jun; Saporta, Mario; Sadjadi, Reza; Walk, David; Burns, Joshua; Muntoni, Francesco; Ramchandren, Sindhu; Horvath, Rita; Johnson, Nicholas E; Züchner, Stephan; Pareyson, Davide; Scherer, Steven S; Rossor, Alexander M; Shy, Michael E; Reilly, Mary M

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

肌营养不良蛋白相关蛋白-2 的缺失会破坏夏科-马里-图斯病患者的卡哈尔带

Brennan Kathryn M, Bai Yunhong, Pisciotta Chiara, Wang Suola, Feely Shawna M E, Hoegger Mark, Gutmann Laurie, Moore Steven A, Gonzalez Michael, Sherman Diane L, Brophy Peter J, Züchner Stephan, Shy Michael E

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

采用Rasch分析法对夏科-马里-图斯神经病评分(CMTNSv2)第二版进行心理测量学评估

Sadjadi, Reza; Reilly, Mary M; Shy, Michael E; Pareyson, Davide; Laura, Matilde; Murphy, Sinead; Feely, Shawna M E; Grider, Tiffany; Bacon, Chelsea; Piscosquito, Giuseppe; Calabrese, Daniela; Burns, Ted M