PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.220302022203e30Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in IranSajad Rafiee Komachali, Zakieh Siahpoosh, Mansoor Salehihttp://genominfo.org/upload/pdf/gi-22030.pdf, http://genominfo.org/journal/view.php?doi=10.5808/gi.22030, http://genominfo.org/upload/pdf/gi-22030.pdf
Genetics in Medicine10.1038/gim.2015.1742016181108Erratum: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencinghttp://www.nature.com/articles/gim2015174.pdf, http://www.nature.com/articles/gim2015174, https://api.elsevier.com/content/article/PII:S1098360021043045?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1098360021043045?httpAccept=text/plain, http://www.nature.com/articles/gim2015174.pdf
Gene Reports10.1016/j.genrep.2022.101692202229101692Novel mutation in SMPD1 gene found by whole-exome sequencing in Niemann-Pick disease patientElaheh Shahabi, Dor Mohammad Kordi-Tamandani, Maryam Najafi, Ali Khajehhttps://api.elsevier.com/content/article/PII:S245201442200200X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S245201442200200X?httpAccept=text/plain
Clinical Genetics10.1111/cge.121332013852154-158Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegiaC. Bettencourt, J.L. López-Sendón, J. García-Caldentey, P. Rizzu, I.M.C. Bakker, O. Shomroni, B. Quintáns, J.R. Dávila, M.R. Bevova, M.-J. Sobrido, P. Heutink, J.G. de Yébeneshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12133
10.21203/rs.3.rs-41775/v22020Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese PopulationXin Jiang, Dong Chenhttps://www.researchsquare.com/article/rs-41775/v2, https://www.researchsquare.com/article/rs-41775/v2.html
10.21203/rs.3.rs-41775/v12020Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese PopulationXin Jiang, Dong Chenhttps://www.researchsquare.com/article/rs-41775/v1, https://www.researchsquare.com/article/rs-41775/v1.html
Movement Disorders10.1002/mds.235522011263553-556Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive ParkinsonismArianna Guidubaldi, Carla Piano, Filippo M. Santorelli, Gabriella Silvestri, Martina Petracca, Alessandra Tessa, Anna Rita Bentivogliohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23552, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23552, http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23552/fullpdf
Eye10.1038/s41433-021-01525-x2021364749-759Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patientsTsz Kin Ng, Yingjie Cao, Xiang-Ling Yuan, Shaowan Chen, Yanxuan Xu, Shao-Lang Chen, Yuqian Zheng, Haoyu Chenhttps://www.nature.com/articles/s41433-021-01525-x.pdf, https://www.nature.com/articles/s41433-021-01525-x, https://www.nature.com/articles/s41433-021-01525-x.pdf
Journal of Neurology10.1007/s00415-014-7443-3201426191825-1827Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 geneMaria Pia Giannoccaro, Rocco Liguori, Alessia Arnoldi, Vincenzo Donadio, Patrizia Avoni, Maria Teresa Bassihttp://link.springer.com/content/pdf/10.1007/s00415-014-7443-3.pdf, http://link.springer.com/article/10.1007/s00415-014-7443-3/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00415-014-7443-3
Movement Disorders10.1002/mds.219422008236917-919Two novel mutations in theSPG11gene causing hereditary spastic paraplegia associated with thin corpus callosumShu-Shan Zhang, Qin Chen, Xue-Ping Chen, Jian-Gang Wang, Jean-Marc Burgunder, Hui-Fang Shang, Jean-Marc Burgunder, Yuan Yanghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.21942, https://onlinelibrary.wiley.com/doi/full/10.1002/mds.21942