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

Insights from a cross-sectional population-based study of 10,929 Australians living with Parkinson's disease: risk factors, comorbidities, and sex differences

一项基于人群的横断面研究,纳入了10929名澳大利亚帕金森病患者,揭示了以下方面的见解:风险因素、合并症和性别差异

Cao, Fangyuan; McAloney, Kerrie; Ogonowski, Natalia S; García-Marín, Luis M; Díaz-Torres, Santiago; Flores-Ocampo, Victor; Ceja, Zuriel; Chafota, Freddy; Parker, Richard; Ferguson, Mary; Cicero, Rebekah A; List-Armitage, Susan E; Miller, Vicki; Campbell, Clyde; Sue, Carolyn M; Kumar, Kishore R; Mellick, George D; Martin, Nicholas G; Rentería, Miguel E

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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

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

Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

长读长测序:肌张力障碍的第三代诊断检测方法

Wirth, Thomas; Kumar, Kishore R; Zech, Michael

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

一项前瞻性试验比较了可编程靶向长读长测序和短读长基因组测序在小脑共济失调基因诊断中的应用。

Rafehi, Haloom; Fearnley, Liam G; Read, Justin; Snell, Penny; Davies, Kayli C; Scott, Liam; Gillies, Greta; Thompson, Genevieve C; Field, Tess A; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H C; Szmulewicz, David J; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias

脊髓小脑性共济失调患者小脑认知情感综合征量表两年内表现下降

Selvadurai, Louisa P; Lo Giudice, Chiara; Wallis, Sarah; Morgan, James; Kumar, Kishore R; Szmulewicz, David J; Harding, Ian H

Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6

脊髓小脑性共济失调1型、2型、3型和6型患者的认知功能的精神运动和非运动相关性

Selvadurai, Louisa P; Gullia, Sheryl; Morgan, James; Wallis, Sarah; Kumar, Kishore R; Szmulewicz, David J; Harding, Ian H

Barriers to clinical genetic testing in movement disorders

运动障碍临床基因检测的障碍

Yeow, Dennis; Rudaks, Laura I; Kumar, Kishore R

Chronic Pain in Parkinson's Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

帕金森病慢性疼痛:患病率、性别差异、区域解剖和合并症

Ogonowski, Natalia S; Chafota, Freddy; Cao, Fangyuan; Lim, Amanda Wei Yin; Flores-Ocampo, Victor; Díaz-Torres, Santiago; Ceja, Zuriel; García-Marín, Luis M; Farrell, Scott F; Kumar, Kishore R; Alty, Jane; Mellick, George D; Ngô, Trung Thành; Rentería, Miguel E