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Tìm được 56 kết quả
Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing
Tác giả: Andrew T Knox, Christopher H Thompson, Dillon Scott, Tatiana V Abramova, Bethany Stieve, Abigail Freeman, Alfred L George
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc: 
 
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
Tác giả: Riley M McCarty, Dimah Saade, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J Skalsky, Jennifer R Friedman, Stephen R Braddock, Sarah B Neuhaus, Denise M Malicki, Matthew N Bainbridge, Pinki Munot, Shareef Nahas, David P Dimmock, Stephen F Kingsmore, Timothy E Lotze, A Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G Bönnemann, Chamindra G Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  373.236
 
Incremental clinical value of intraplaque neovascularization in predicting recurrent ischemic stroke
Tác giả: Liuping Cui, Ran Liu, Fubo Zhou, Bing Tian, Ying Chen, Yingqi Xing
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  297.1248
 
Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years
Tác giả: Matthew R B Evans, Hamza A Salhab, Christopher D J Sinclair, Sachit Shah, Michael G Hanna, Tarek A Yousry, John S Thornton, Jasper M Morrow, Mary M Reilly
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  952.03
 
Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real-world cohort study
Tác giả: Robin W van Steenhoven, Saan Salih, Jacoline E C Bromberg, Corine H GeurtsvanKessel, Peter A E Sillevis Smitt, Rutger K Balvers, Maarten J Titulaer, Juna M de Vries, Ide Smets, Rob M Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S Crijnen, Marjolein Geurts
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  912.01
 
Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series
Tác giả: Alexandra K Brooks, Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E Alecu, Darius Ebrahimi-Fakhari
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc: 
 
Real-world clinical experience with serum MOG and AQP4 antibody testing by live versus fixed cell-based assay
Tác giả: Yana Said, Angeliki Filippatou, Sean J Pittock, Eoin P Flanagan, Elias S Sotirchos, Conlan Tran, LuAnn Rezavi, Kai Guo, Matthew D Smith, Yasmin Resto, John J Chen, Peter A Calabresi, Patrizio Caturegli
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  332.34
 
Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP-43 A and B
Tác giả: Sean Coulborn, Rhiana Schafer, Lea T Grinberg, Daniel H Geschwind, Maria L Gorno-Tempini, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seeley, David C Perry, Ashlin R K Roy, Andrzej Sokolowski, Noah G Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  651.504
 
Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders
Tác giả: Davut Pehlivan, Chengjun Huang, Leonardo Sahelijo, Huda Y Zoghbi, Matthew J McGinley, Bernhard Suter, Holly K Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic-Savatic, Laurence Mignon, Sukru Aras, Daniel G Glaze, Charles S Layne
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  518.6
 
Retinal thinning differentiates treatment effects in relapsing multiple sclerosis below the clinical threshold
Tác giả: Gabriel Bsteh, Harald Hegen, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Gudrun Zulehner, Tobias Zrzavy, Florian Deisenhammer, Franziska Di Pauli, Berthold Pemp, Nik Krajnc, Thomas Berger, Fabian Föttinger, Patrick Altmann, Michael Auer, Klaus Berek, Barbara Kornek, Fritz Leutmezer, Stefan Macher
Xuất bản: United States: Annals of clinical and translational neurology , 2025
Bộ sưu tập: NCBI
ddc:  363.232
 
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