References
- Ton Fang, Goun Je, Peter Pacut, et al. Gene therapy in amyotrophic lateral sclerosis. Cells. 2022;11(13):2066.
- Jie Zhang, An Wen, Wen Chai, et al. Potential proteomic alteration in the brain of Tg(SOD1*G93A)1Gur mice: a new pathogenesis insight of amyotrophic lateral sclerosis. Cell Biol Int. 2022.
Reference
- Erfanian Omidvar M, Torkamandi S, Rezaei S, et al. Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. J Neurol. 2021;268(6): 2065–82.
References
- Black HA, Leighton DJ, Cleary EM, et al. Neurobiol Aging. 2017;51:178.e11–178.e20.
- Roggenbuck J, Fong JC. Clin Lab Med. 2020;40(3):271–87.
- Dharmadasa T, Scaber J, Edmond E, et al. Practical Neurology 2022;22:107–116
Reference
- Sabatelli M, Eusebi F, Al-Chalabi A, et al. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18(20):3997–4006.
References
- Chiò A, Calvo A, Moglia C, et al. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82:740–6.
- Turner MR, Barohn RJ, Corcia P, et al. J Neurol Neurosurg Psychiatry. 2020;91(4): 373–377.
Reference
- Van Rheenen W, Van Der Spek RA, Bakker MK, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 2021;53:1636–48.
References
- Adzhubei IA, Schmidt S, Peshkin L, et al. Nat Methods. 2010;7:248–9.
- Frazer J, Notin P, Dias M, et al. Nature. 2021;599:91–95.
- Schmidt A, Röner S, Mai K, et al. bioRxiv. 2022.
- Rentzsch P, Witten D, Cooper GM, et al. Nucleic Acids Res. 2019;47:D886–94.
- Ioannidis NM, Rothstein JH, Pejaver V, et al. Am J Hum Genet. 2016;99:877–85.
- Richards S, Aziz N, Bale S, et al. Genet Med 2015;17:405–24.
References
- McCombe PA and Henderson RD. Gend Med. 2010;7:557–70.
- Vivekananda U, Manjalay ZR, Ganesalingam J et al. J Neurol Neurosurg Psychiatry 2011;82(6):635–7.
- Rooney JPK, Visser AE, D’Ovido F, et al. Neurology. 2017;89:1283–90.
- Ryan M, Heverin M, McLaughlin RL, Hardiman Ol. JAMA Neurol. 2019;76(11):1367–74
- van Rheenen W, van der Spek RAA, Bakker MK, et al. Nat Genet. 202(153):1636–1648.
- Berson A, Sartoris A, Nativio R, et al. 2017;27(23):3579–3590.
- Arosio A, Sala G, Rodriguez-Menendez V, et al. Mol Cell Neurosci. 2016;74:10–7.
Reference
- Richards S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
References
- Antony JM, Deslauriers AM, Bhat RK, et al. Biochim Biophys Acta. 2011;1812:162–76.
- Perron H, Germi R, Bernard C, et al. Scler. 2012;18:1721–36.
- Steele AJ, Al-Chalabi A, Ferrante K, et al. Neurology. 2005;64:454–8.
- Oluwole SO, Yao Y, Conradi S, et al. Amyotroph Lateral Scler. 2007;8:67–72.
- Douville R, Liu J, Rothstein J, Nath A. Ann Neurol. 2011;69:141–51.
- Zhan X, Hu Y, Li B, et al. Bioinformatics. 2016;32:1423–60.
Reference
- Pisano MP, Grandi N, Cadeddu M, et al. J Virol. 2019;93(16).
References
- Sasaki S, Iwata M. Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis. Neurology. 1996;47(2):535–40.
- OkadaY, Yamazaki H, Sekine-Aizawa Y, Hirokawa N. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell. 1995;81(5):769–80.
- Tanaka Y, Niwa S, Dong M, et al. The molecular motor KIF1A transports the TrkA neurotrophin receptor and is essential for sensory neuron survival and function. Neuron. 2016;90(6):1215–29.
- Nicolas A, Kenna KP, Renton AE, et al. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron. 2018;97(6):1268–83.e6.
References
- Berman, HM, et al. The protein data bank. Nucleic Acids Res. 2000;28(1):235–42.
- Landrum, MJ, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062–7.
- Abel O, et al. ALSoD: a user-friendly online bioinformatics tool for ALS genetics. Hum Mutat. 2012;33(9):1345–51.