Page 222 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 8
78. Caldwell ALM, Sancho L, Deng J, et al. Aberrant astrocyte protein secretion contributes to
altered neuronal development in multiple models of neurodevelopmental disorders. Nat
Neurosci. Sep 2022;25(9):1163-1178. doi:10.1038/s41593-022-01150-1
79. Susco SG, Ghosh S, Mazzucato P, et al. Molecular convergence between Down syndrome
and fragile X syndrome identified using human pluripotent stem cell models. Cell Rep. Sep 6
2022;40(10):111312. doi:10.1016/j.celrep.2022.111312
80. Sønderby IE, Ching CRK, Thomopoulos SI, et al. Effects of copy number variations on brain
structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups
on CNVs. Hum Brain Mapp. Jan 2022;43(1):300-328. doi:10.1002/hbm.25354
81. Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of
Rett syndrome. Science. Feb 23 2007;315(5815):1143-7. doi:10.1126/science.1138389
82. Sabitha KR, Shetty AK, Upadhya D. Patient-derived iPSC modeling of rare neurodevelopmental
disorders: Molecular pathophysiology and prospective therapies. Neurosci Biobehav Rev. Feb
2021;121:201-219. doi:10.1016/j.neubiorev.2020.12.025
83. Valassina N, Brusco S, Salamone A, et al. Scn1a gene reactivation after symptom onset
rescues pathological phenotypes in a mouse model of Dravet syndrome. Nat Commun. Jan 10
2022;13(1):161. doi:10.1038/s41467-021-27837-w
84. van Eeghen AM, Bruining H, Wolf NI, et al. Personalized medicine for rare neurogenetic
disorders: can we make it happen? Cold Spring Harb Mol Case Stud. Feb 2022;8(2)doi:10.1101/
mcs.a006200
85. Tigchelaar EF, Zhernakova A, Dekens JA, et al. Cohort profile: LifeLines DEEP, a prospective,
general population cohort study in the northern Netherlands: study design and baseline
characteristics. BMJ Open. Aug 28 2015;5(8):e006772. doi:10.1136/bmjopen-2014-006772
86. Schram MT, Sep SJ, van der Kallen CJ, et al. The Maastricht Study: an extensive phenotyping
study on determinants of type 2 diabetes, its complications and its comorbidities. Eur J
Epidemiol. Jun 2014;29(6):439-51. doi:10.1007/s10654-014-9889-0
87. Falony G, Joossens M, Vieira-Silva S, et al. Population-level analysis of gut microbiome
variation. Science. Apr 29 2016;352(6285):560-4. doi:10.1126/science.aad3503
88. Chen L, Zhernakova DV, Kurilshikov A, et al. Influence of the microbiome, diet and genetics on
inter-individual variation in the human plasma metabolome. Nat Med. Nov 2022;28(11):2333-
2343. doi:10.1038/s41591-022-02014-8
89. Esbensen AJ, Hoffman EK, Beebe DW, et al. Randomized Behavioral Sleep Clinical Trial to
Improve Outcomes in Children With Down Syndrome. Am J Intellect Dev Disabil. Mar 1
2022;127(2):149-164. doi:10.1352/1944-7558-127.2.149
90. Downs J, Blackmore AM, Wong K, et al. Can telehealth increase physical activity in individuals
with Rett syndrome? A multicentre randomized controlled trial. Dev Med Child Neurol. Apr
2023;65(4):489-497. doi:10.1111/dmcn.15436
91. Bullard L, Harvey D, Abbeduto L. Exploring the feasibility of collecting multimodal multiperson
assessment data via distance in families affected by fragile X syndrome. J Telemed Telecare.
Apr 12 2021:1357633x211003810. doi:10.1177/1357633x211003810
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