Page 108 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
108. Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I. Biochemical, clinical and neuroradiological (MRI)
correlations in late-detected PKU patients. J Inherit Metab Dis. 1995;18(5):624-34. doi:10.1007/
bf02436009
109. Konrad PN, McCarthy DJ, Mauer AM, Valentine WN, Paglia DE. Erythrocyte and leukocyte
phosphoglycerate kinase deficiency with neurologic disease. J Pediatr. Mar 1973;82(3):456-
60. doi:10.1016/s0022-3476(73)80120-9
110. Sakaue S, Kasai T, Mizuta I, et al. Early-onset parkinsonism in a pedigree with phosphoglycerate
kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to
parkinsonism? NPJ Parkinsons Dis. 2017;3:13. doi:10.1038/s41531-017-0014-4
111. Virmani T, Rotstein M, Spiegel R, Akman HO, DiMauro S, Greene PE. Levodopa Responsive
Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency. Mov Disord Clin Pract.
Sep 2014;1(3):240-242. doi:10.1002/mdc3.12055
112. Morales-Briceno H, Ha AD, London K, Farlow D, Chang FCF, Fung VSC. Parkinsonism in PGK1
deficiency implicates the glycolytic pathway in nigrostriatal dysfunction. Parkinsonism Relat
Disord. Jul 2019;64:319-323. doi:10.1016/j.parkreldis.2019.04.004
113. Rotstein M, Spiegel R, DiMauro S. Juvenile parkinsonism and myopathy caused by a T378P
mutation of the phosphoglycerate kinase gene PGK1. Movement Disorders. 2012;27(SUPPL.
1):S69. 16th International Congress of Parkinson’s Disease and Movement Disorders. Dublin
Ireland. (var.pagings). doi:http://dx.doi.org/10.1002/mds.25051
114. Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S. Myopathy and parkinsonism in
phosphoglycerate kinase deficiency. Muscle Nerve. May 2010;41(5):707-10. doi:10.1002/
mus.21612
115. Echaniz-Laguna A, Nadjar Y, Behin A, et al. Phosphoglycerate kinase deficiency: A nationwide
multicenter retrospective study. J Inherit Metab Dis. Sep 2019;42(5):803-808. doi:10.1002/
jimd.12087
116. Bandettini di Poggio M, Nesti C, Bruno C, Meschini MC, Schenone A, Santorelli FM. Dopamine-
agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG
mutation. BMC Med Genet. Oct 7 2013;14:105. doi:10.1186/1471-2350-14-105
117. De Pue A, Santens P. Late onset ophthalmoplegia and parkinsonism due to a novel POLG
mutation. European Journal of Neurology. 2016;23(SUPPL. 2):297. 2nd Congress of the
European Academy of Neurology. Copenhagen Denmark. (var.pagings). doi:http://dx.doi.
org/10.1111/ene.13092
118. Khodadadi H, Azcona LJ, Aghamollaii V, et al. PTRHD1 (C2orf79) mutations lead to autosomal-
recessive intellectual disability and parkinsonism. Mov Disord. Feb 2017;32(2):287-291.
doi:10.1002/mds.26824
119. Jaberi E, Rohani M, Shahidi GA, et al. Mutation in ADORA1 identified as likely cause of
early-onset parkinsonism and cognitive dysfunction. Mov Disord. Jul 2016;31(7):1004-11.
doi:10.1002/mds.26627
120. Kuipers DJS, Carr J, Bardien S, et al. PTRHD1 Loss-of-function mutation in an african family
with juvenile-onset Parkinsonism and intellectual disability. Mov Disord. Nov 2018;33(11):1814-
1819. doi:10.1002/mds.27501
121. Ortez C, Jou C, Cortes-Saladelafont E, et al. Infantile parkinsonism and GABAergic
hypotransmission in a patient with pyruvate carboxylase deficiency. Gene. Dec 15
2013;532(2):302-6. doi:10.1016/j.gene.2013.08.036
122. Ciammola A, Carrera P, Di Fonzo A, et al. X-linked Parkinsonism with Intellectual Disability
caused by novel mutations and somatic mosaicism in RAB39B gene. Parkinsonism and Related
Disorders. 2017;44:142-146. doi:http://dx.doi.org/10.1016/j.parkreldis.2017.08.021
123. Guldner M, Schulte C, Hauser AK, Gasser T, Brockmann K. Broad clinical phenotype in
Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.
Parkinsonism Relat Disord. Oct 2016;31:148-150. doi:10.1016/j.parkreldis.2016.07.005
124. Lesage S, Bras J, Cormier-Dequaire F, et al. Loss-of-function mutations in RAB39B are
associated with typical early-onset Parkinson disease. Neurol Genet. Jun 2015;1(1):e9.
doi:10.1212/nxg.0000000000000009
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