Page 113 - Demo
P. 113


                                    Parkinsonism in GNDs1112198.	Ruottinen HM, Rinne JO, Haaparanta M, et al. [18F]fluorodopa PETshows striatal dopaminergicdysfunction in juvenile neuronal ceroid lipofuscinosis. J Neurol Neurosurg Psychiatry. Jun 1997;62(6):622-5. doi:10.1136/jnnp.62.6.622199. Aberg L, Liewendahl K, Nikkinen P, Autti T, Rinne JO, Santavuori P. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology. Mar 14 2000;54(5):1069-74. doi:10.1212/wnl.54.5.1069200. Aberg LE, Rinne JO, Rajantie I, Santavuori P. A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. Neurology. May 8 2001;56(9):1236-9. doi:10.1212/wnl.56.9.1236201. Hunter H. A controlled study of the psychopathology and physical measurements of Klinefelter’s syndrome. Br J Psychiatry. Apr 1969;115(521):443-8. doi:10.1192/bjp.115.521.443202.	Madubata CC, Olsen MA, Stwalley DL, Gutmann DH, Johnson KJ. Neurofibromatosis type 1and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med. Jan 2015;17(1):36-42. doi:10.1038/gim.2014.70203. Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet. Sep 4-10 2004;364(9437):875-82. doi:10.1016/s0140-6736(04)16983-3204.	Orrico A, Lam C, Galli L, et al. MECP2 mutation in male patients with non-specific X-linkedmental retardation. FEBS Lett. Sep 22 2000;481(3):285-8. doi:10.1016/s0014-5793(00)01994-3205. FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Mov Disord. 1990;5(3):195-202. doi:10.1002/mds.870050303206. Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. Jul 2016;139(Pt 7):1904-18. doi:10.1093/brain/aww111207. Zouari M, Nehdi H, Ben Hamed M, Hentati F, Amouri R. Hereditary spastic paraplegia with thin corpus callosum: Clinical, radiological and genetic study. Journal of the Neurological Sciences. 2009;285(SUPPL. 1):S106. 19th World Congress of Neurology. Bangkok Thailand. (var.pagings). 208. Korvatska O, Strand NS, Berndt JD, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet. Aug 15 2013;22(16):3259-68. doi:10.1093/hmg/ddt180
                                
   107   108   109   110   111   112   113   114   115   116   117