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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.
Hypospadias as a novel feature in spinal bulbar muscle atrophy.
Nordenvall AS, Paucar M, Almqvist C, Nordenström A, Frisén L, Nordenskjöld A. Nordenvall AS, et al. Among authors: paucar m. J Neurol. 2016 Apr;263(4):703-6. doi: 10.1007/s00415-016-8038-y. Epub 2016 Feb 12. J Neurol. 2016. PMID: 26872663
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.
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.
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.
WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.
Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa JM, Solders G, Hertegård S, Savitcheva I, Jung HH, Tolnay M, Frey BM, Paucar M. Sveinsson O, et al. Among authors: paucar m. Parkinsonism Relat Disord. 2018 Oct 8:S1353-8020(18)30399-7. doi: 10.1016/j.parkreldis.2018.09.014. Online ahead of print. Parkinsonism Relat Disord. 2018. PMID: 30305234 No abstract available.
83 results