Page 220 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 8
39. Ascaso FJ, Laura C, Quintanilla MÁ, et al. Retinal nerve fiber layer thickness measured by
optical coherence tomography in patients with schizophrenia: A short report. The European
Journal of Psychiatry. 2010;24:227-235.
40. Xie JS, Donaldson L, Margolin E. The use of optical coherence tomography in neurology: a
review. Brain. Dec 19 2022;145(12):4160-4177. doi:10.1093/brain/awac317
41. Appaji A, Nagendra B, Chako DM, et al. Retinal vascular fractal dimension in bipolar disorder
and schizophrenia. J Affect Disord. Dec 1 2019;259:98-103. doi:10.1016/j.jad.2019.08.061
42. Appaji A, Nagendra B, Chako DM, et al. Retinal vascular tortuosity in schizophrenia and bipolar
disorder. Schizophr Res. Oct 2019;212:26-32. doi:10.1016/j.schres.2019.08.020
43. Wei Y, Jiang H, Shi Y, et al. Age-Related Alterations in the Retinal Microvasculature,
Microcirculation, and Microstructure. Invest Ophthalmol Vis Sci. Jul 1 2017;58(9):3804-3817.
doi:10.1167/iovs.17-21460
44. Huang L, Wang C, Wang W, Wang Y, Zhang R. The specific pattern of retinal nerve fiber
layer thinning in Parkinson’s disease: a systematic review and meta-analysis. J Neurol. Nov
2021;268(11):4023-4032. doi:10.1007/s00415-020-10094-0
45. Gaetani L, Blennow K, Calabresi P, Di Filippo M, Parnetti L, Zetterberg H. Neurofilament
light chain as a biomarker in neurological disorders. J Neurol Neurosurg Psychiatry. Aug
2019;90(8):870-881. doi:10.1136/jnnp-2018-320106
46. Hickman RA, O’Shea SA, Mehler MF, Chung WK. Neurogenetic disorders across the lifespan:
from aberrant development to degeneration. Nat Rev Neurol. Feb 2022;18(2):117-124.
doi:10.1038/s41582-021-00595-5
47. Walpert MJ, Normando EM, Annus T, et al. Age-related retinal thickness in Down’s syndrome:
A high-risk population for dementia. Alzheimers Dement (Amst). Dec 2019;11:744-751.
doi:10.1016/j.dadm.2019.08.007
48. Butcher NJ, Kiehl TR, Hazrati LN, et al. Association between early-onset Parkinson disease
and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson
disease and its clinical implications. JAMA Neurol. Nov 2013;70(11):1359-66. doi:10.1001/
jamaneurol.2013.3646
49. Persengiev S, Kondova I, Bontrop R. Insights on the functional interactions between miRNAs
and copy number variations in the aging brain. Front Mol Neurosci. Oct 2 2013;6:32. doi:10.3389/
fnmol.2013.00032
50. Hébert SS, De Strooper B. Alterations of the microRNA network cause neurodegenerative
disease. Trends Neurosci. Apr 2009;32(4):199-206. doi:10.1016/j.tins.2008.12.003
51. Thomas KT, Zakharenko SS. MicroRNAs in the Onset of Schizophrenia. Cells. Oct 6 2021;10(10)
doi:10.3390/cells10102679
52. Granat L, Hunt RJ, Bateman JM. Mitochondrial retrograde signalling in neurological
disease. Philos Trans R Soc Lond B Biol Sci. Jun 22 2020;375(1801):20190415. doi:10.1098/
rstb.2019.0415
53. Schor NF, Bianchi DW. Neurodevelopmental Clues to Neurodegeneration. Pediatr Neurol. Oct
2021;123:67-76. doi:10.1016/j.pediatrneurol.2021.07.012
54. Motahari Z, Moody SA, Maynard TM, LaMantia AS. In the line-up: deleted genes associated
with DiGeorge/22q11.2 deletion syndrome: are they all suspects? J Neurodev Disord. Jun 7
2019;11(1):7. doi:10.1186/s11689-019-9267-z
55. Baldini A, Fulcoli FG, Illingworth E. Tbx1: Transcriptional and Developmental Functions. Curr
Top Dev Biol. 2017;122:223-243. doi:10.1016/bs.ctdb.2016.08.002
56. Tian C, Johnson KR. TBX1 is required for normal stria vascularis and semicircular canal
development. Dev Biol. Jan 1 2020;457(1):91-103. doi:10.1016/j.ydbio.2019.09.013
57. Tammela T, Zarkada G, Nurmi H, et al. VEGFR-3 controls tip to stalk conversion at vessel fusion
sites by reinforcing Notch signalling. Nat Cell Biol. Sep 11 2011;13(10):1202-13. doi:10.1038/
ncb2331
58. Keithley EM. Pathology and mechanisms of cochlear aging. J Neurosci Res. Sep
2020;98(9):1674-1684. doi:10.1002/jnr.24439
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