.Kaufmann, P., Pariser, A. R. & Austin, C. From clinical revelation to procedures for uncommon diseasesu00e2 $" the perspective coming from the National Center for Evolving Translational Sciencesu00e2 $" Office of Rare Diseases Study. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A contact us to upper arms against ultra-rare diseases. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Vockley, J. et al. The growing duty of clinical geneticists in the age of genetics treatment: a necessity to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et al. Patient-customized oligonucleotide therapy for a rare hereditary ailment. N. Engl. J. Med. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et al. A structure for customized splice-switching oligonucleotide therapy. Type 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et cetera. Human RNase H1 evaluates between refined varieties in the framework of the heteroduplex substratum. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T., Baker, B. F., Crooke, R. M. & Liang, X.-H. Antisense modern technology: an introduction as well as program. Nat. Rev. Medicine Discov. Twenty, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et cetera. De novo mutations in the electric motor domain of KIF1A trigger cognitive impairment, abnormal paraparesis, axonal neuropathy, and also cerebellar atrophy. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et cetera. Genotype and problems in microtubule-based motility connect with professional intensity in KIF1A-associated neurological disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kondo, M., Takei, Y. & Hirokawa, N. Electric motor protein KIF1A is vital for hippocampal synaptogenesis and knowing enhancement in a developed atmosphere. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et cetera. An uncommon KIF1A missense anomaly improves synaptic function and boosts seizure task. Face. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et al. Development of the phenotypic sphere of de novo missense alternatives in kinesin family member 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Canivez, G. L. & McGill, R. J. Variable structure of the Differential Ability Scales-Second Edition: exploratory and hierarchical variable studies along with the primary subtests. Psychol. Determine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Epstein, A. et al. Material recognition of the lifestyle inventoryu00e2 $" special needs. Child Care Health Dev. 45, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Lek, M. et al. Study of protein-coding hereditary variant in 60,706 humans. Attributes 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medicine Products for Significantly Devastating or even Lethal Ailments: Medical Suggestions (US Food and Drug Administration, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or-lifeIND Submittings for Personalized Antisense Oligonucleotide Drug Products: Managerial and Procedural Recommendations Guidance for Sponsor-Investigators (US Food and Drug Administration, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-administrative-and-proceduralInvestigational New Medication Application Submissions for Individual Antisense Oligonucleotide Medication Products for Drastically Incapacitating or Severe Diseases: Chemical Make Up, Production, as well as Controls Recommendations, Direction for Sponsor-Investigators (United States Food and Drug Administration, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/investigational-new-drug-application-submissions-individualized-antisense-oligonucleotide-drugNonclinical Testing of Individualized Antisense Oligonucleotide Medicine Products for Significantly Debilitating or even Serious Diseases Assistance for Sponsor-Investigators (US Fda, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/nonclinical-testing-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or.