Appendix A
References
Abeliovich, A., and A. D. Gitler. 2016. Defects in trafficking bridge Parkinson’s disease pathology and genetics. Nature 539(7628):207–216.
Adams, D., A. Gonzalez-Duarte, W. D. O’Riordan, C. C. Yang, M. Ueda, A. V. Kristen, I. Tournev, H. H. Schmidt, T. Coelho, J. L. Berk, K. P. Lin, G. Vita, S. Attarian, V. Plante-Bordeneuve, M. M. Mezei, J. M. Campistol, J. Buades, T. H. Brannagan, 3rd, B. J. Kim, J. Oh, Y. Parman, Y. Sekijima, P. N. Hawkins, S. D. Solomon, M. Polydefkis, P. J. Dyck, P. J. Gandhi, S. Goyal, J. Chen, A. L. Strahs, S. V. Nochur, M. T. Sweetser, P. P. Garg, A. K. Vaishnaw, J. A. Gollob, and O. B. Suhr. 2018. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. New England Journal of Medicine 379(1):11–21.
Amado, D. A., J. M. Rieders, F. Diatta, P. Hernandez-Con, A. Singer, J. T. Mak, J. Zhang, E. Lancaster, B. L. Davidson, and A. S. Chen-Plotkin. 2019. AAV-mediated progranulin delivery to a mouse model of progranulin deficiency causes T cell-mediated toxicity. Molecular Therapy 27(2):465–478.
Banez-Coronel, M., F. Ayhan, A. D. Tarabochia, T. Zu, B. A. Perez, S. K. Tusi, O. Pletnikova, D. R. Borchelt, C. A. Ross, R. L. Margolis, A. T. Yachnis, J. C. Troncoso, and L. P. Ranum. 2015. RAN translation in Huntington disease. Neuron 88(4):667–677.
Bedbrook, C. N., K. K. Yang, J. E. Robinson, V. Gradinaru, and F. H. Arnold. In press. Machine learning-guided channelrhodopsin engineering enables minimally-invasive optogenetics. Nature Methods.
Bennett, J., M. Ashtari, J. Wellman, K. A. Marshall, L. L. Cyckowski, D. C. Chung, S. McCague, E. A. Pierce, Y. Chen, J. L. Bennicelli, X. Zhu, G. S. Ying, J. Sun, J. F. Wright, A. Auricchio, F. Simonelli, K. S. Shindler, F. Mingozzi, K. A. High, and A. M. Maguire. 2012. AAV2 gene therapy readministration in three adults with congenital blindness. Science Translational Medicine 4(120):120ra115.
Bennicelli, J., J. F. Wright, A. Komaromy, J. B. Jacobs, B. Hauck, O. Zelenaia, F. Mingozzi, D. Hui, D. Chung, T. S. Rex, Z. Wei, G. Qu, S. Zhou, C. Zeiss, V. R. Arruda, G. M. Acland, L. F. Dell’Osso, K. A. High, A. M. Maguire, and J. Bennett. 2008. Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Molecular Therapy 16(3):458–465.
Betancur, C., and J. D. Buxbaum. 2013. SHANK3 haploinsufficiency: A “common” but under-diagnosed highly penetrant monogenic cause of autism spectrum disorders. Molecular Autism 4(1):17.
Bevan, A. K., S. Duque, K. D. Foust, P. R. Morales, L. Braun, L. Schmelzer, C. M. Chan, M. McCrate, L. G. Chicoine, B. D. Coley, P. N. Porensky, S. J. Kolb, J. R. Mendell, A. H. Burghes, and B. K. Kaspar. 2011. Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Molecular Therapy 19(11):1971–1980.
Buchman, A. S., L. Yu, R. S. Wilson, S. E. Leurgans, S. Nag, J. M. Shulman, L. L. Barnes, J. A. Schneider, and D. A. Bennett. 2019. Progressive Parkinsonism in older adults is related to the burden of mixed brain pathologies. Neurology 92(16):e1821–e1830.
Challis, R. C., S. R. Kumar, K. Y. Chan, C. Challis, K. Beadle, M. J. Jang, H. M. Kim, P. S. Rajendran, J. D. Tompkins, K. Shivkumar, B. E. Deverman, and V. Gradinaru. 2019. Systemic AAV vectors for widespread and targeted gene delivery in rodents. Nature Protocols 14:379–414.
Chan, K. Y., M. J. Jang, B. B. Yoo, A. Greenbaum, N. Ravi, W. L. Wu, L. Sanchez-Guardado, C. Lois, S. K. Mazmanian, B. E. Deverman, and V. Gradinaru. 2017. Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems. Nature Neuroscience 20(8):1172–1179.
Chatterjee, D., M. Bhatt, D. Butler, E. De Genst, C. M. Dobson, A. Messer, and J. H. Kordower. 2018. Proteasome-targeted nanobodies alleviate pathology and functional decline in an alpha-synuclein-based Parkinson’s disease model. npj Parkinson’s Disease 4:25.
Christopher, P. P., P. S. Appelbaum, D. Truong, K. Albert, L. Maranda, and C. Lidz. 2017. Reducing therapeutic misconception: A randomized intervention trial in hypothetical clinical trials. PLoS ONE 12(9):e0184224.
Chu, Y., A. S. Buchman, C. W. Olanow, and J. H. Kordower. 2018. Do subjects with minimal motor features have prodromal Parkinson disease? Annals of Neurology 83(3):562–574.
Chung, D. C., S. McCague, Z. F. Yu, S. Thill, J. DiStefano-Pappas, J. Bennett, D. Cross, K. Marshall, J. Wellman, and K. A. High. 2018. Novel mobility test to assess functional vision in patients with inherited retinal dystrophies. Clinical & Experimental Ophthalmology 46(3):247–259.
Dahl, M., A. Doyle, K. Olsson, J. E. Mansson, A. R. A. Marques, M. Mirzaian, J. M. Aerts, M. Ehinger, M. Rothe, U. Modlich, A. Schambach, and S. Karlsson. 2015. Lentiviral gene therapy using cellular promoters cures Type 1 Gaucher disease in mice. Molecular Therapy 23(5):835–844.
Deciphering Developmental Disorders Study. 2015. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519(7542):223–228.
Deverman, B. E., P. L. Pravdo, B. P. Simpson, S. R. Kumar, K. Y. Chan, A. Banerjee, W. L. Wu, B. Yang, N. Huber, S. P. Pasca, and V. Gradinaru. 2016. Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain. Nature Biotechnology 34(2):204–209.
DeVos, S. L., R. L. Miller, K. M. Schoch, B. B. Holmes, C. S. Kebodeaux, A. J. Wegener, G. Chen, T. Shen, H. Tran, B. Nichols, T. A. Zanardi, H. B. Kordasiewicz, E. E. Swayze, C. F. Bennett, M. I. Diamond, and T. M. Miller. 2017. Tau reduction prevents neuronal loss and reverses pathological tau deposition and seeding in mice with tauopathy. Science Translational Medicine 9(374):eaag0481.
Duque, S. I., W. D. Arnold, P. Odermatt, X. Li, P. N. Porensky, L. Schmelzer, K. Meyer, S. J. Kolb, D. Schumperli, B. K. Kaspar, and A. H. Burghes. 2015. A large animal model of spinal muscular atrophy and correction of phenotype. Annals of Neurology 77(3):399–414.
Farrar, M. A., and M. C. Kiernan. 2015. The genetics of spinal muscular atrophy: Progress and challenges. Neurotherapeutics 12(2):290–302.
FDA (Food and Drug Administration). 2019. May 24, 2019 approval letter—zolgensmsa. https://www.fda.gov/media/126130/download (accessed May 25, 2019).
Finkel, R. S., M. P. McDermott, P. Kaufmann, B. T. Darras, W. K. Chung, D. M. Sproule, P. B. Kang, A. R. Foley, M. L. Yang, W. B. Martens, M. Oskoui, A. M. Glanzman, J. Flickinger, J. Montes, S. Dunaway, J. O’Hagen, J. Quigley, S. Riley, M. Benton, P. A. Ryan, M. Montgomery, J. Marra, C. Gooch, and D. C. De Vivo. 2014. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 83(9):810–817.
Finkel, R. S., C. A. Chiriboga, J. Vajsar, J. W. Day, J. Montes, D. C. De Vivo, M. Yamashita, F. Rigo, G. Hung, E. Schneider, D. A. Norris, S. Xia, C. F. Bennett, and K. M. Bishop. 2016. Treatment of infantile-onset spinal muscular atrophy with nusinersen: A phase 2, open-label, dose-escalation study. The Lancet 388(10063):3017–3026.
Finkel, R. S., E. Mercuri, B. T. Darras, A. M. Connolly, N. L. Kuntz, J. Kirschner, C. A. Chiriboga, K. Saito, L. Servais, E. Tizzano, H. Topaloglu, M. Tulinius, J. Montes, A. M. Glanzman, K. Bishop, Z. J. Zhong, S. Gheuens, C. F. Bennett, E. Schneider, W. Farwell, D. C. De Vivo, and E. S. Group. 2017. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New England Journal of Medicine 377(18):1723–1732.
Flytzanis, N. C., C. N. Bedbrook, H. Chiu, M. K. Engqvist, C. Xiao, K. Y. Chan, P. W. Sternberg, F. H. Arnold, and V. Gradinaru. 2014. Archaerhodopsin variants with enhanced voltage-sensitive fluorescence in mammalian and Caenorhabditis elegans neurons. Nature Communications 5:4894.
Foust, K. D., X. Wang, V. L. McGovern, L. Braun, A. K. Bevan, A. M. Haidet, T. T. Le, P. R. Morales, M. M. Rich, A. H. Burghes, and B. K. Kaspar. 2010. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nature Biotechnology 28(3):271–274.
Gao, F. B., and J. D. Richter. 2017. Microsatellite expansion diseases: Repeat toxicity found in translation. Neuron 93(2):249–251.
Garrison, L. P., T. Jackson, D. Paul, and M. Kenston. 2019. Value-based pricing for emerging gene therapies: The economic case for a higher cost-effectiveness threshold. Journal of Managed Care & Specialty Pharmacy 25(7):793–799.
Gaugler, T., L. Klei, S. J. Sanders, C. A. Bodea, A. P. Goldberg, A. B. Lee, M. Mahajan, D. Manaa, Y. Pawitan, J. Reichert, S. Ripke, S. Sandin, P. Sklar, O. Svantesson, A. Reichenberg, C. M. Hultman, B. Devlin, K. Roeder, and J. D. Buxbaum. 2014. Most genetic risk for autism resides with common variation. Nature Genetics 46(8):881–885.
Geschwind, D. H., and G. Konopka. 2009. Neuroscience in the era of functional genomics and systems biology. Nature 461(7266):908–915.
Gray, S. J., B. L. Blake, H. E. Criswell, S. C. Nicolson, R. J. Samulski, T. J. McCown, and W. Li. 2010. Directed evolution of a novel adeno-associated virus (AAV) vector that crosses the seizure-compromised blood–brain barrier (BBB). Molecular Therapy 18(3):570–578.
Guy, J., J. Gan, J. Selfridge, S. Cobb, and A. Bird. 2007. Reversal of neurological defects in a mouse model of Rett Syndrome. Science 315(5815):1143–1147.
Henderson, G. E., L. R. Churchill, A. M. Davis, M. M. Easter, C. Grady, S. Joffe, N. Kass, N. M. P. King, C. W. Lidz, F. G. Miller, D. K. Nelson, J. Peppercorn, B. B. Rothschild, P. Sankar, B. S. Wilfond, and C. R. Zimmer. 2007. Clinical trials and medical care: Defining the therapeutic misconception. PLoS Medicine 4(11):e324.
Hua, Y., K. Sahashi, G. Hung, F. Rigo, M. A. Passini, C. F. Bennett, and A. R. Krainer. 2010. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes & Development 24(15):1634–1644.
Huckins, L. M., A. Dobbyn, D. M. Ruderfer, G. Hoffman, W. Wang, A. F. Pardinas, V. M. Rajagopal, T. D. Als, H. T. Nguyen, K. Girdhar, J. Boocock, P. Roussos, M. Fromer, R. Kramer, E. Domenici, E. R. Gamazon, S. Purcell, CommonMind Consortium, The Schizophrenia Working Group of the Psychiatric Genomics Consortium, iPSYCH-GEMS Schizophrenia Working Group, D. Demontis, A. D. Borglum, J. T. R. Walters, M. C. O’Donovan, P. Sullivan, M. J. Owen, B. Devlin, S. K. Sieberts, N. J. Cox, H. K. Im, P. Sklar, and E. A. Stahl. 2019. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51(4):659–674.
ICER (Institute for Clinical and Economic Review). 2019. Spinraza and zolgensma for spinal muscular atrophy: Effectiveness and value: Final evidence report. https://icer-review.org/wp-content/uploads/2018/07/ICER_SMA_Final_Evidence_Report_040319.pdf (accessed August 9, 2019).
Jonsen, A. R. 2007. The god squad and the origins of transplantation ethics and policy. The Journal of Law, Medicine & Ethics 35(2):238–240.
Kaltenboeck, A., and P. B. Bach. 2018. Value-based pricing for drugs: Theme and variations. JAMA 319(21):2165–2166.
Kaufmann, P., M. P. McDermott, B. T. Darras, R. S. Finkel, D. M. Sproule, P. B. Kang, M. Oskoui, A. Constantinescu, C. L. Gooch, A. R. Foley, M. L. Yang, R. Tawil, W. K. Chung, W. B. Martens, J. Montes, V. Battista, J. O’Hagen, S. Dunaway, J. Flickinger, J. Quigley, S. Riley, A. M. Glanzman, M. Benton, P. A. Ryan, M. Punyanitya, M. J. Montgomery, J. Marra, B. Koo, D. C. De Vivo, Muscle Study Group, and Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy. 2012. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 79(18):1889–1897.
Khvorova, A., and J. K. Watts. 2017. The chemical evolution of oligonucleotide therapies of clinical utility. Nature Biotechnology 35(3):238–248.
Kolb, S. J., C. S. Coffey, J. W. Yankey, K. Krosschell, W. D. Arnold, S. B. Rutkove, K. J. Swoboda, S. P. Reyna, A. Sakonju, B. T. Darras, R. Shell, N. Kuntz, D. Castro, J. Parsons, A. M. Connolly, C. A. Chiriboga, C. McDonald, W. B. Burnette, K. Werner, M. Thangarajh, P. B. Shieh, E. Finanger, M. E. Cudkowicz, M. M. McGovern, D. E. McNeil, R. Finkel, S. T. Iannaccone, E. Kaye, A. Kingsley, S. R. Renusch, V. L. McGovern, X. Wang, P. G. Zaworski, T. W. Prior, A. H. M. Burghes, A. Bartlett, J. T. Kissel, and NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators. 2017. Natural history of infantile-onset spinal muscular atrophy. Annals of Neurology 82(6):883–891.
Kole, R., and A. M. Krieg. 2015. Exon skipping therapy for Duchenne muscular dystrophy. Advanced Drug Delivery Reviews 87:104–107.
Kordower, J. H., S. Palfi, E. Y. Chen, S. Y. Ma, T. Sendera, E. J. Cochran, E. J. Mufson, R. Penn, C. G. Goetz, and C. D. Comella. 1999. Clinicopathological findings following intraventricular glial-derived neurotrophic factor treatment in a patient with Parkinson’s disease. Annals of Neurology 46(3):419–424.
Kordower, J. H., M. E. Emborg, J. Bloch, S. Y. Ma, Y. Chu, L. Leventhal, J. McBride, E. Y. Chen, S. Palfi, B. Z. Roitberg, W. D. Brown, J. E. Holden, R. Pyzalski, M. D. Taylor, P. Carvey, Z. Ling, D. Trono, P. Hantraye, N. Deglon, and P. Aebischer. 2000. Neurodegeneration prevented by lentiviral vector delivery of GDNF in primate models of Parkinson’s disease. Science 290(5492):767–773.
Kornegay, J. N. 2017. The golden retriever model of Duchenne muscular dystrophy. Skeletal Muscle 7(1):9.
Li, L., E. K. Dimitriadis, Y. Yang, J. Li, Z. Yuan, C. Qiao, C. Beley, R. H. Smith, L. Garcia, and R. M. Kotin. 2013. Production and characterization of novel recombinant adeno-associated virus replicative-form genomes: A eukaryotic source of DNA for gene transfer. PLoS ONE 8(8):e69879.
Liu, G., B. Boot, J. J. Locascio, I. E. Jansen, S. Winder-Rhodes, S. Eberly, A. Elbaz, A. Brice, B. Ravina, J. J. van Hilten, F. Cormier-Dequaire, J. C. Corvol, R. A. Barker, P. Heutink, J. Marinus, C. H. Williams-Gray, C. R. Scherzer, and International Genetics of Parkinson Disease Progression Consortium. 2016a. Specifically neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s. Annals of Neurology 80(5):674–685.
Liu, W., L. Zhao, B. Blackman, M. Parmar, M. Y. Wong, T. Woo, F. Yu, M. J. Chiuchiolo, D. Sondhi, S. M. Kaminsky, R. G. Crystal, and S. M. Paul. 2016b. Vectored intracerebral immunization with the anti-tau monoclonal antibody PHF1 markedly reduces tau pathology in mutant tau transgenic mice. Journal of Neuroscience 36(49):12425–12435.
Lo Bianco, C., N. Deglon, W. Pralong, and P. Aebischer. 2004. Lentiviral nigral delivery of GDNF does not prevent neurodegeneration in a genetic rat model of Parkinson’s disease. Neurobiology of Disease 17(2):283–289.
Lundstrom, K. 2018. Viral vectors in gene therapy. Diseases 6(2):42.
Mei, Y., P. Monteiro, Y. Zhou, J. A. Kim, X. Gao, Z. Fu, and G. Feng. 2016. Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. Nature 530(7591):481–484.
Mendell, J. R., S. Al-Zaidy, R. Shell, W. D. Arnold, L. R. Rodino-Klapac, T. W. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. T. Kissel, S. Nagendran, J. L’Italien, D. M. Sproule, C. Wells, J. A. Cardenas, M. D. Heitzer, A. Kaspar, S. Corcoran, L. Braun, S. Likhite, C. Miranda, K. Meyer, K. D. Foust, A. H. M. Burghes, and B. K. Kaspar. 2017. Single-dose gene-replacement therapy for spinal muscular atrophy. New England Journal of Medicine 377(18):1713–1722.
Mintrom, M., and R. Bollard. 2009. Governing controversial science: Lessons from stem cell research. Policy and Society 28(4):301–314.
Monteys, A. M., S. A. Ebanks, M. S. Keiser, and B. L. Davidson. 2017. CRISPR/Cas9 editing of the mutant Huntingtin allele in vitro and in vivo. Molecular Therapy 25(1):12–23.
Morabito, G., S. G. Giannelli, G. Ordazzo, S. Bido, V. Castoldi, M. Indrigo, T. Cabassi, S. Cattaneo, M. Luoni, C. Cancellieri, A. Sessa, M. Bacigaluppi, S. Taverna, L. Leocani, J. L. Lanciego, and V. Broccoli. 2017. AAV-PHP.B-mediated global-scale expression in the mouse nervous system enables GBA1 gene therapy for wide protection from synucleinopathy. Molecular Therapy 25(12):2727–2742.
Olson, E. J., L. A. Hartsough, B. P. Landry, R. Shroff, and J. J. Tabor. 2014. Characterizing bacterial gene circuit dynamics with optically programmed gene expression signals. Nature Methods 11(4):449–455.
Pacione, M., C. E. Siskind, J. W. Day, and H. K. Tabor. 2019. Perspectives on Spinraza (nusinersen) treatment study: Views of individuals and parents of children diagnosed with spinal muscular atrophy. Journal of Neuromuscular Diseases 6(1):119–131.
Palfi, S., J. M. Gurruchaga, H. Lepetit, K. Howard, G. S. Ralph, S. Mason, G. Gouello, P. Domenech, P. C. Buttery, P. Hantraye, N. J. Tuckwell, R. A. Barker, and K. A. Mitrophanous. 2018. Long-term follow-up of a phase I/II study of prosavin, a lentiviral vector gene therapy for Parkinson’s disease. Human Gene Therapy Clinical Development 29(3):148–155.
Paton, D. M. 2017. Nusinersen: Antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy. Drugs of Today (Barcelona, Spain: 1998) 53(6):327–337.
Power, R. A., S. Kyaga, R. Uher, J. H. MacCabe, N. Langstrom, M. Landen, P. McGuffin, C. M. Lewis, P. Lichtenstein, and A. C. Svensson. 2013. Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings. JAMA Psychiatry 70(1):22–30.
Rayaprolu, V., S. Kruse, R. Kant, B. Venkatakrishnan, N. Movahed, D. Brooke, B. Lins, A. Bennett, T. Potter, R. McKenna, M. Agbandje-McKenna, and B. Bothner. 2013. Comparative analysis of adeno-associated virus capsid stability and dynamics. Journal of Virology 87(24):13150–13160.
Rudnik-Schoneborn, S., C. Berg, K. Zerres, C. Betzler, T. Grimm, T. Eggermann, K. Eggermann, R. Wirth, B. Wirth, and R. Heller. 2009. Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: Implications for clinical trials and genetic counselling. Clinical Genetics 76(2):168–178.
Rund, B. R. 2018. The research evidence for schizophrenia as a neurodevelopmental disorder. Scandinavian Journal of Psychology 59(1):49–58.
Russell, S., J. Bennett, J. A. Wellman, D. C. Chung, Z. F. Yu, A. Tillman, J. Wittes, J. Pappas, O. Elci, S. McCague, D. Cross, K. A. Marshall, J. Walshire, T. L. Kehoe, H. Reichert, M. Davis, L. Raffini, L. A. George, F. P. Hudson, L. Dingfield, X. Zhu, J. A. Haller, E. H. Sohn, V. B. Mahajan, W. Pfeifer, M. Weckmann, C. Johnson, D. Gewaily, A. Drack, E. Stone, K. Wachtel, F. Simonelli, B. P. Leroy, J. F. Wright, K. A. High, and A. M. Maguire. 2017a. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial. The Lancet 390(10097):849–860.
Russell, S. R., J. Bennett, J. A. Wellman, D. C. Chung, K. A. High, Z. Yu, A. Tillman, and A. M. Maguire. 2017b. Year 2 results for a phase 3 trial of voretigene neparvovec in biallelic RPE65-mediated inherited retinal disease. Poster presented at the Association for Research in Vision and Ophthalmology Annual Meeting, May 7–11, 2017, Baltimore, MD.
Sardi, S. P., J. Clarke, C. Viel, M. Chan, T. J. Tamsett, C. M. Treleaven, J. Bu, L. Sweet, M. A. Passini, J. C. Dodge, W. H. Yu, R. L. Sidman, S. H. Cheng, and L. S. Shihabuddin. 2013. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for Parkinsonism and other Gaucher-related synucleinopathies. Proceedings of the National Academy of Sciences of the United States of America 110(9):3537–3542.
Sathasivam, K., A. Neueder, T. A. Gipson, C. Landles, A. C. Benjamin, M. K. Bondulich, D. L. Smith, R. L. Faull, R. A. Roos, D. Howland, P. J. Detloff, D. E. Housman, and G. P. Bates. 2013. Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proceedings of the National Academy of Sciences of the United States of America 110(6):2366–2370.
Sibbald, B. 2001. Death but one unintended consequence of gene-therapy trial. CMAJ 164(11):1612.
Sidransky, E., T. Samaddar, and N. Tayebi. 2009. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 73(17):1424–1425, author reply 1425–1426.
Steinbrook, R. 2008. The Gelsinger case. In The Oxford textbook of clinical research ethics, edited by E. J. Emanuel, C. G. Grady, R. A. Crouch, R. K. Lie, F. G. Miller, and D. D. Wendler. New York: Oxford University Press. Pp. 110–120.
Sun, J., J. Carlson-Stevermer, U. Das, M. Shen, M. Delenclos, A. M. Snead, S. Y. Koo, L. Wang, D. Qiao, J. Loi, A. J. Petersen, M. Stockton, A. Bhattacharyya, M. V. Jones, X. Zhao, P. J. McLean, A. A. Sproul, K. Saha, and S. Roy. 2019. CRISPR/Cas9 editing of APP C-terminus attenuates beta-cleavage and promotes alpha-cleavage. Nature Communications 10(1):53.
