Page 57 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
96. Gillies GE, Pienaar IS, Vohra S, Qamhawi Z. Sex differences in Parkinson’s disease. Front
Neuroendocrinol. Aug 2014;35(3):370-84. doi:10.1016/j.yfrne.2014.02.002
97. Noyce AJ, Schrag A, Masters JM, Bestwick JP, Giovannoni G, Lees AJ. Subtle motor
disturbances in PREDICT-PD participants. J Neurol Neurosurg Psychiatry. Mar 2017;88(3):212-
217. doi:10.1136/jnnp-2016-314524
98. Rees RN, Noyce AJ, Schrag A. The prodromes of Parkinson’s disease. Eur J Neurosci. Feb
2019;49(3):320-327. doi:10.1111/ejn.14269
99. Tolosa E, Compta Y. Dystonia in Parkinson’s disease. J Neurol. Dec 2006;253 Suppl 7:Vii7-13.
doi:10.1007/s00415-006-7003-6
100. Son AY, Biagioni MC, Kaminski D, Gurevich A, Stone B, Di Rocco A. Parkinson’s Disease and
Cryptogenic Epilepsy. Case Rep Neurol Med. 2016;doi:10.1155/2016/3745631
101. Butcher NJ, Boot E, Lang AE, et al. Neuropsychiatric expression and catatonia in 22q11.2
deletion syndrome: An overview and case series. Am J Med Genet A. Oct 2018;176(10):2146-
2159. doi:10.1002/ajmg.a.38708
102. Stavoe AKH, Holzbaur ELF. Autophagy in Neurons. Annu Rev Cell Dev Biol. Oct 6 2019;35:477-
500. doi:10.1146/annurev-cellbio-100818-125242
103. Luza S, Opazo CM, Bousman CA, Pantelis C, Bush AI, Everall IP. The ubiquitin proteasome
system and schizophrenia. Lancet Psychiatry. Jun 2020;7(6):528-537. doi:10.1016/s2215-
0366(19)30520-6
104. Khacho M, Harris R, Slack RS. Mitochondria as central regulators of neural stem cell fate and
cognitive function. Nat Rev Neurosci. Jan 2019;20(1):34-48. doi:10.1038/s41583-018-0091-3
105. Tuoc TC, Stoykova A. Roles of the ubiquitin-proteosome system in neurogenesis. Cell Cycle.
Aug 15 2010;9(16):3174-80. doi:10.4161/cc.9.16.12551
106. Ghavami S, Shojaei S, Yeganeh B, et al. Autophagy and apoptosis dysfunction in
neurodegenerative disorders. Prog Neurobiol. Jan 2014;112:24-49. doi:10.1016/j.
pneurobio.2013.10.004
107. Andres-Alonso M, Kreutz MR, Karpova A. Autophagy and the endolysosomal system in
presynaptic function. Cell Mol Life Sci. Mar 2021;78(6):2621-2639. doi:10.1007/s00018-020-
03722-5
108. Mattson MP, Gleichmann M, Cheng A. Mitochondria in neuroplasticity and neurological
disorders. Neuron. Dec 10 2008;60(5):748-66. doi:10.1016/j.neuron.2008.10.010
109. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. Oct 31
2003;302(5646):826-30. doi:10.1126/science.1089071
110. Kurtishi A, Rosen B, Patil KS, Alves GW, Møller SG. Cellular Proteostasis in Neurodegeneration.
Mol Neurobiol. May 2019;56(5):3676-3689. doi:10.1007/s12035-018-1334-z
111. Poewe W, Seppi K, Tanner CM, et al. Parkinson disease. Nat Rev Dis Primers. Mar 23
2017;3:17013. doi:10.1038/nrdp.2017.13
112. Catafau AM, Tolosa E. Impact of dopamine transporter SPECT using 123I-Ioflupane on
diagnosis and management of patients with clinically uncertain Parkinsonian syndromes. Mov
Disord. Oct 2004;19(10):1175-82. doi:10.1002/mds.20112
113. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric
patients with congenital anomalies or intellectual disability: an evidence-based clinical
guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in
Medicine. 2021/11/01 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
114. Crawford K, Bracher-Smith M, Owen D, et al. Medical consequences of pathogenic CNVs
in adults: analysis of the UK Biobank. J Med Genet. Mar 2019;56(3):131-138. doi:10.1136/
jmedgenet-2018-105477
115. 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
116. Durmaz AA, Karaca E, Demkow U, Toruner G, Schoumans J, Cogulu O. Evolution of
genetic techniques: past, present, and beyond. Biomed Res Int. 2015;2015:461524.
doi:10.1155/2015/461524
2
55