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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.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: puschmann a. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Will FTLD-tau work for all when FTDP-17 retires?
Ygland E, Landqvist Waldö M, Englund E, Puschmann A, Nilsson C. Ygland E, et al. Among authors: puschmann a. Brain. 2018 Aug 1;141(8):e62. doi: 10.1093/brain/awy178. Brain. 2018. PMID: 29947741 No abstract available.
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.
New generation genetic testing entering the clinic.
Gorcenco S, Ilinca A, Almasoudi W, Kafantari E, Lindgren AG, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Parkinsonism Relat Disord. 2020 Apr;73:72-84. doi: 10.1016/j.parkreldis.2020.02.015. Epub 2020 Mar 2. Parkinsonism Relat Disord. 2020. PMID: 32273229 Free article. Review.
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.
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P. Garcia-Moreno H, et al. Among authors: puschmann a. Eur J Neurol. 2022 Aug;29(8):2439-2452. doi: 10.1111/ene.15373. Epub 2022 May 26. Eur J Neurol. 2022. PMID: 35478426 Free PMC article.
120 results