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Page 1
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Among authors: paucar m. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
Paroxysmal Kinesigenic Dyskinesia.
Paucar M, Malmgren H, Svenningsson P. Paucar M, et al. Tremor Other Hyperkinet Mov (N Y). 2017 Dec 12;7:529. doi: 10.7916/D8R79N2F. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 29276650 Free PMC article.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Among authors: paucar m. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Ataxin-2 gene: a powerful modulator of neurological disorders.
Laffita-Mesa JM, Paucar M, Svenningsson P. Laffita-Mesa JM, et al. Among authors: paucar m. Curr Opin Neurol. 2021 Aug 1;34(4):578-588. doi: 10.1097/WCO.0000000000000959. Curr Opin Neurol. 2021. PMID: 34010218 Free PMC article. Review.
Variant ataxia-telangiectasia with prominent camptocormia.
Paucar M, Schechtmann G, Taylor AM, Svenningsson P. Paucar M, et al. Parkinsonism Relat Disord. 2019 May;62:253-255. doi: 10.1016/j.parkreldis.2018.12.017. Epub 2018 Dec 17. Parkinsonism Relat Disord. 2019. PMID: 30579816 No abstract available.
The burden of cardiovascular events according to cardiovascular risk profile in adults from high-income, middle-income, and low-income countries (PURE): a cohort study.
Leong DP, Yusuf R, Iqbal R, Avezum Á, Yusufali A, Rosengren A, Chifamba J, Lanas F, Diaz ML, Miranda JJ, Davletov K, Mirrakhimov E, Yeates K, Khatib R, Alhabib KF, Gulec S, Paucar MJ, Lopez-Lopez JP, Mohan V, Gupta R, Soman B, Lakshmi PVM, Poirier P, Teo K, Zatonska K, Mat-Nasir N, Artamonova G, Hu B, Liu Z, Liu X, Dans A, Rangarajan S, Yusuf S; PURE Study Investigators. Leong DP, et al. Among authors: paucar mj. Lancet Glob Health. 2025 Aug;13(8):e1406-e1414. doi: 10.1016/S2214-109X(25)00155-X. Lancet Glob Health. 2025. PMID: 40712612 Free article.
[Recent advances in Huntington's disease].
Niemelä V, Petersén Å, Loutfi G, Svenningsson P, Paucar M. Niemelä V, et al. Among authors: paucar m. Lakartidningen. 2020 Mar 9;117:FU7H. Lakartidningen. 2020. PMID: 32154905 Free article. Swedish.
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Paucar M, Nilsson D, Engvall M, Laffita-Mesa J, Söderhäll C, Skorpil M, Halldin C, Fazio P, Lagerstedt-Robinson K, Solders G, Angeria M, Varrone A, Risling M, Jiao H, Nennesmo I, Wedell A, Svenningsson P. Paucar M, et al. J Intern Med. 2024 Sep;296(3):234-248. doi: 10.1111/joim.13815. Epub 2024 Jul 7. J Intern Med. 2024. PMID: 38973251
[Orthostatic tremor - a disregarded diagnosis].
Af Edholm Arvidsson K, Paucar M, Svenningsson P. Af Edholm Arvidsson K, et al. Among authors: paucar m. Lakartidningen. 2020 May 20;117:FX4L. Lakartidningen. 2020. PMID: 32430901 Free article. Swedish.
84 results