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Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Kafantari E, Andréasson S, Säll T, Puschmann A. Kafantari E, et al. Among authors: puschmann a. Parkinsonism Relat Disord. 2020 Oct;79:138-140. doi: 10.1016/j.parkreldis.2020.10.021. Epub 2020 Oct 12. Parkinsonism Relat Disord. 2020. PMID: 33069610 No abstract available.
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. Puschmann A, et al. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. doi: 10.1016/j.parkreldis.2009.06.007. Epub 2009 Jul 25. Parkinsonism Relat Disord. 2009. PMID: 19632874 Free PMC article.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. Parkinsonism Relat Disord. 2019. PMID: 30343981 No abstract available.
Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.
Puschmann A, Jiménez-Ferrer I, Lundblad-Andersson E, Mårtensson E, Hansson O, Odin P, Widner H, Brolin K, Mzezewa R, Kristensen J, Soller M, Rödström EY, Ross OA, Toft M, Breedveld GJ, Bonifati V, Brodin L, Zettergren A, Sydow O, Linder J, Wirdefeldt K, Svenningsson P, Nissbrandt H, Belin AC, Forsgren L, Swanberg M. Puschmann A, et al. Parkinsonism Relat Disord. 2019 Sep;66:158-165. doi: 10.1016/j.parkreldis.2019.07.032. Epub 2019 Jul 31. Parkinsonism Relat Disord. 2019. PMID: 31422003 Free article.
120 results