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

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies

脑桥小脑发育不全1型及相关神经病变

Škarica, Mario; Acsadi, Gyula; Živković, Sasha A

Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension

膜卷曲相关蛋白相关疾病模拟特发性颅内高压

Chiou, Carolina A; Rajabi, Farrah; Fulton, Anne B; Acsadi, Gyula; Waitzman, David M; Gaier, Eric D

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

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

诺西那生治疗脊髓性肌萎缩症的安全性和有效性:EMBRACE 研究

Acsadi, Gyula; Crawford, Thomas O; Müller-Felber, Wolfgang; Shieh, Perry B; Richardson, Randal; Natarajan, Niranjana; Castro, Diana; Ramirez-Schrempp, Daniela; Gambino, Giulia; Sun, Peng; Farwell, Wildon

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

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

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

BICD2基因突变引起的脊髓性肌萎缩症的表型和分子机制研究

Rossor, Alexander M; Oates, Emily C; Salter, Hannah K; Liu, Yang; Murphy, Sinead M; Schule, Rebecca; Gonzalez, Michael A; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N; Blake, Julian; Sowden, Janet E; Acsadi, Gyuda; Rodriguez, Michael L; Menezes, Manoj P; Clarke, Nigel F; Auer Grumbach, Michaela; Bullock, Simon L; Muntoni, Francesco; Reilly, Mary M; North, Kathryn N

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

回复:BICD2基因中的p.Ser107Leu突变是导致远端脊髓性肌萎缩症的“热点”突变。

Rossor, Alexander M; Oates, Emily C; Salter, Hannah K; Liu, Yang; Murphy, Sinead M; Schule, Rebecca; Gonzales, Michael A; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N; Blake, Julian; Sowden, Janet E; Acsadi, Gyuda; Rodriguez, Michael L; Menezes, Manoj P; Clarke, Nigel F; Auer Grumbach, Michaela; Bullock, Simon L; Muntoni, Francesco; Reilly, Mary M; North, Kathryn N

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

儿童交替性偏瘫:美国AHCF登记处187例受试者的回顾性遗传学研究及基因型-表型相关性分析

Viollet, Louis; Glusman, Gustavo; Murphy, Kelley J; Newcomb, Tara M; Reyna, Sandra P; Sweney, Matthew; Nelson, Benjamin; Andermann, Frederick; Andermann, Eva; Acsadi, Gyula; Barbano, Richard L; Brown, Candida; Brunkow, Mary E; Chugani, Harry T; Cheyette, Sarah R; Collins, Abigail; DeBrosse, Suzanne D; Galas, David; Friedman, Jennifer; Hood, Lee; Huff, Chad; Jorde, Lynn B; King, Mary D; LaSalle, Bernie; Leventer, Richard J; Lewelt, Aga J; Massart, Mylynda B; Mérida, Mario R 2nd; Ptáček, Louis J; Roach, Jared C; Rust, Robert S; Renault, Francis; Sanger, Terry D; Sotero de Menezes, Marcio A; Tennyson, Rachel; Uldall, Peter; Zhang, Yue; Zupanc, Mary; Xin, Winnie; Silver, Kenneth; Swoboda, Kathryn J