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Appendix
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Literature
1.
go back to reference Martin-Brevet S et al (2018) Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study. Biol Psychiatry 84(4):253–264CrossRefPubMed Martin-Brevet S et al (2018) Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study. Biol Psychiatry 84(4):253–264CrossRefPubMed
2.
go back to reference Weiss LA et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675CrossRefPubMed Weiss LA et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675CrossRefPubMed
4.
go back to reference Steinman KJ et al (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955CrossRefPubMed Steinman KJ et al (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955CrossRefPubMed
5.
go back to reference Rana HQ et al (2013) Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med 15(2):146–149CrossRefPubMed Rana HQ et al (2013) Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med 15(2):146–149CrossRefPubMed
6.
go back to reference Barrett MJ et al (2013) Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis 36(3):575–580CrossRefPubMed Barrett MJ et al (2013) Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis 36(3):575–580CrossRefPubMed
Metadata
Title
Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome
Authors
Benjamin Roeben
Dominik Blum
Heinz Gabriel
Matthis Synofzik
Publication date
01-03-2019
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 3/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-019-09182-7

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