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

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

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

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

基因假基因倒位是缺失遗传力的一个隐蔽来源

Quartesan, Ilaria; Facchini, Stefano; Manini, Arianna; Schnekenberg, Ricardo Parolin; Pisciotta, Chiara; Magri, Stefania; Negri, Sara; Gaetano, Carlo; Rebelo, Adriana; Raposo, Jacquelyn Schatzman; Mazanec, Radim; Curro, Riccardo; Dominik, Natalia; Efthymiou, Stephanie; Laurà, Matilde; Grider, Tiffany; Feely, Shawna Me; Fridman, Vera; Bertini, Alessandro; Alves, Gustavo Maximiano; Ferullo, Lucia; Ghia, Arianna; Caccia, Claudio; Balistreri, Francesca; Saveri, Paola; Crivellari, Luca; Moroni, Isabella; Danti, Federica Rachele; Mongini, Tiziana; Taroni, Franco; Auer-Grumbach, Michaela; Bugiardini, Enrico; Sleigh, James N; Tucci, Arianna; Houlden, Henry; Laššuthová, Petra; Seeman, Pavel; Basile, Anna; Giorgio, Elisa; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M; Pareyson, Davide; Cortese, Andrea

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

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A

一项关于夏科-马里-图斯神经病1A型遗传修饰因子研究快速临床入组的研究概念

Xu, Isaac R L; Danzi, Matt C; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M; Cortese, Andrea; Shy, Michael E; Scherer, Steven S; Herrmann, David N; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P; Dohrn, Maike F; Züchner, Stephan

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

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study

与MPZ基因突变相关的夏科-马里-图斯病疾病进展:一项纵向研究

Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laurá, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J; Lloyd, Thomas E; Day, John; Siskind, Carly E; Yum, Sabrina W; Sadjadi, Reza; Finkel, Richard S; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E

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