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

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

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

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

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

一项基于Rasch分析的CMT1A纵向研究,采用CMT神经病变和检查评分

Fridman, Vera; Sillau, Stefan; Acsadi, Gyula; Bacon, Chelsea; Dooley, Kimberly; Burns, Joshua; Day, John; Feely, Shawna; Finkel, Richard S; Grider, Tiffany; Gutmann, Laurie; Herrmann, David N; Kirk, Callyn A; Knause, Sarrah A; Laurá, Matilde; Lewis, Richard A; Li, Jun; Lloyd, Thomas E; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Giuseppe; Ramchandren, Sindhu; Saporta, Mario; Sadjadi, Reza; Shy, Rosemary R; Siskind, Carly E; Sumner, Charlotte J; Walk, David; Wilcox, Janel; Yum, Sabrina W; Züchner, Stephan; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E

Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy

影响A带的新型杂合截短型肌联蛋白变异体与心肌病和肌病/肌营养不良症相关。

Rich, Kelly A; Moscarello, Tia; Siskind, Carly; Brock, Guy; Tan, Christopher A; Vatta, Matteo; Winder, Thomas L; Elsheikh, Bakri; Vicini, Leah; Tucker, Brianna; Palettas, Marilly; Hershberger, Ray E; Kissel, John T; Morales, Ana; Roggenbuck, Jennifer

Positive Attitudes and Therapeutic Misconception Around Hypothetical Clinical Trial Participation in the Huntington's Disease Community

亨廷顿病群体对参与假设性临床试验的积极态度和治疗误解

Cotter, Kristina; Siskind, Carly E; Sha, Sharon J; Hanson-Kahn, Andrea K

"This could be me": exploring the impact of genetic risk for Huntington's disease young caregivers

“这可能就是我”:探究亨廷顿舞蹈症遗传风险对年轻照护者的影响

Dondanville, Danielle S; Hanson-Kahn, Andrea K; Kavanaugh, Melinda S; Siskind, Carly E; Fanos, Joanna H

Charcot Marie Tooth disease type 4J with complex central nervous system features

伴有复杂中枢神经系统特征的夏科-马里-图斯病 4J 型

Orengo, James P; Khemani, Pravin; Day, John W; Li, Jun; Siskind, Carly E

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

LGI4 是一种参与雪旺细胞髓鞘形成的分泌配体,其功能丧失突变是先天性多发性关节挛缩症的病因

Xue Shifeng, Maluenda Jérôme, Marguet Florent, Shboul Mohammad, Quevarec Loïc, Bonnard Carine, Ng Alvin Yu Jin, Tohari Sumanty, Tan Thong Teck, Kong Mung Kei, Monaghan Kristin G, Cho Megan T, Siskind Carly E, Sampson Jacinda B, Rocha Carolina Tesi, Alkazaleh Fawaz, Gonzales Marie, Rigonnot Luc, Whalen Sandra, Gut Marta, Gut Ivo, Bucourt Martine, Venkatesh Byrappa, Laquerrière Annie, Reversade Bruno, Melki Judith