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Expanding the ataxia with oculomotor apraxia type 4 phenotype.
Paucar M, Malmgren H, Taylor M, Reynolds JJ, Svenningsson P, Press R, Nordgren A. Paucar M, et al. Neurol Genet. 2016 Jan 21;2(1):e49. doi: 10.1212/NXG.0000000000000049. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066586 Free PMC article.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Among authors: paucar m. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
An unusual cause of fatal rapid-onset ataxia plus syndrome.
Kmezic I, Weinberg J, Hauzenberger D, Hashim F, Kollia E, Klimkowska M, Nennesmo I, Paucar M. Kmezic I, et al. Among authors: paucar m. Cerebellum Ataxias. 2017 Apr 21;4:5. doi: 10.1186/s40673-017-0063-9. eCollection 2017. Cerebellum Ataxias. 2017. PMID: 28439420 Free PMC article.
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.
Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P. Paucar M, et al. Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. Neurology. 2018. PMID: 30217939 Free PMC article. No abstract available.
[Ataxia - a group of heterogeneous diseases].
Paucar M, Dahl N, Engvall M, Svenningsson P, Solders G. Paucar M, et al. Lakartidningen. 2020 Mar 9;117:FX4F. Lakartidningen. 2020. PMID: 32154899 Free article. Swedish.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Among authors: paucar m. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
89 results