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460 results

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
De novo mutations in ataxin-2 gene and ALS risk.
Laffita-Mesa JM, Rodríguez Pupo JM, Moreno Sera R, Vázquez Mojena Y, Kourí V, Laguna-Salvia L, Martínez-Godales M, Valdevila Figueira JA, Bauer PO, Rodríguez-Labrada R, González Zaldívar Y, Paucar M, Svenningsson P, Velázquez Pérez L. Laffita-Mesa JM, et al. Among authors: svenningsson p. PLoS One. 2013 Aug 6;8(8):e70560. doi: 10.1371/journal.pone.0070560. Print 2013. PLoS One. 2013. PMID: 23936447 Free PMC article.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: svenningsson p. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.
Paucar M, Lindestad PÅ, Walker RH, Svenningsson P. Paucar M, et al. Among authors: svenningsson p. Neurology. 2015 Nov 10;85(19):e143-4. doi: 10.1212/WNL.0000000000002108. Neurology. 2015. PMID: 26553947 Free PMC article. No abstract available.
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. Among authors: svenningsson p. Neurol Genet. 2016 Jan 21;2(1):e49. doi: 10.1212/NXG.0000000000000049. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066586 Free PMC article.
460 results