公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2021 | Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study | Ou S.-F.; Ho C.-S.; WANG-TSO LEE ; Lin K.-L.; Jones C.C.; Jong Y.-J. | Brain and Development | 7 | 7 | |
2021 | Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions | Chan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN ; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J. | Journal of Neurology, Neurosurgery and Psychiatry | 9 | 7 | |
2019 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study | De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU ; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Butterfield R.J.; Topaloglu H.; Ben-Omran T.; Sansone V.A.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group | Neuromuscular Disorders | 376 | 307 | |
2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Pediatrics | 115 | 91 | |
2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 56 | 51 | |
2005 | Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene | Hung C.-C.; CHIEN-NAN LEE ; Chen C.-P.; Jong Y.-J.; CHI-AN CHEN ; WEN-FANG CHENG ; Lin, Win-Li ; Su Y.-N. | Analytical Chemistry | 22 | 21 | |
2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 39 | 38 | |
2008 | Small mutations of the DMD gene in Taiwanese families | HSIAO-LIN HWA ; Chang Y.-Y.; Huang C.-H.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; TSANG-MING KO | Journal of the Formosan Medical Association | 7 | 4 | |
2017 | Tourette syndrome as an independent risk factor for subsequent sleep disorders in children: A nationwide population-based case-control study | WANG-TSO LEE ; Huang H.-L.; LEE-CHIN WONG ; WEN-CHIN WENG ; Vasylenko T.; Jong Y.-J.; Lin W.-S.; Ho S.-Y. | Sleep | 29 | 22 | |
2007 | Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes | Hung C.-C.; Chien S.-C.; Lin C.-Y.; Chang C.-H.; Chang Y.-F.; Jong Y.-J.; SUNG-TSANG HSIEH ; Hsieh W.-S.; Liu M.S.; Win-Li Lin ; CHIEN-NAN LEE ; Su Y.-N. | Electrophoresis | 11 | 11 |