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Items: 22

1.

GLRA1 mutation and long-term follow-up of the first hyperekplexia family.

Paucar M, Waldthaler J, Svenningsson P.

Neurol Genet. 2018 Aug 7;4(4):e259. doi: 10.1212/NXG.0000000000000259. eCollection 2018 Aug. No abstract available.

PMID:
30109271
2.

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

Paucar M, Bergendal Å, Gustavsson P, Nordenskjöld M, Laffita-Mesa J, Savitcheva I, Svenningsson P.

Cerebellum. 2018 Aug;17(4):465-476. doi: 10.1007/s12311-018-0927-4.

3.

Paroxysmal Kinesigenic Dyskinesia.

Paucar M, Malmgren H, Svenningsson P.

Tremor Other Hyperkinet Mov (N Y). 2017 Dec 12;7:529. doi: 10.7916/D8R79N2F. eCollection 2017.

4.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

PMID:
29126212
5.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

Khare S, Nick JA, Zhang Y, Galeano K, Butler B, Khoshbouei H, Rayaprolu S, Hathorn T, Ranum LPW, Smithson L, Golde TE, Paucar M, Morse R, Raff M, Simon J, Nordenskjöld M, Wirdefeldt K, Rincon-Limas DE, Lewis J, Kaczmarek LK, Fernandez-Funez P, Nick HS, Waters MF.

PLoS One. 2017 May 3;12(5):e0173565. doi: 10.1371/journal.pone.0173565. eCollection 2017.

6.

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.

Cerebellum Ataxias. 2017 Apr 21;4:5. doi: 10.1186/s40673-017-0063-9. eCollection 2017.

7.

A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.

Paucar M, Almqvist H, Jelic V, Hagman G, Jörneskog G, Holmin S, Björkhem I, Svenningsson P.

J Neurol Sci. 2017 Apr 15;375:245-247. doi: 10.1016/j.jns.2017.02.007. Epub 2017 Feb 4. No abstract available.

PMID:
28320140
8.

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients.

Machaczka M, Paucar M, Björkvall CK, Smith NJC, Cox TM, Forsgren L, Svenningsson P.

Blood Cells Mol Dis. 2018 Feb;68:86-92. doi: 10.1016/j.bcmd.2016.10.011. Epub 2016 Oct 21.

PMID:
27789132
9.

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.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

10.

Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Paucar M, Almqvist H, Saeed A, Bergendal G, Ygge J, Holmin S, Björkhem I, Svenningsson P.

Neurol Genet. 2016 Jul 6;2(4):e84. doi: 10.1212/NXG.0000000000000084. eCollection 2016 Aug.

11.

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

Paucar M, Beniaminov S, Paslawski W, Svenningsson P.

Cerebellum. 2016 Oct;15(5):636-40. doi: 10.1007/s12311-016-0793-x. Review.

PMID:
27230899
12.

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Paucar M, Engvall M, Gordon L, Tham E, Synofzik M, Svenningsson P.

Cerebellum. 2016 Oct;15(5):632-5. doi: 10.1007/s12311-016-0777-x.

PMID:
27071669
13.

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

Paucar M, Malmgren H, Taylor M, Reynolds JJ, Svenningsson P, Press R, Nordgren A.

Neurol Genet. 2016 Jan 21;2(1):e49. doi: 10.1212/NXG.0000000000000049. eCollection 2016 Feb.

14.

Hypospadias as a novel feature in spinal bulbar muscle atrophy.

Nordenvall AS, Paucar M, Almqvist C, Nordenström A, Frisén L, Nordenskjöld A.

J Neurol. 2016 Apr;263(4):703-6. doi: 10.1007/s00415-016-8038-y. Epub 2016 Feb 12.

PMID:
26872663
15.

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

Paucar M, Lindestad PÅ, Walker RH, Svenningsson P.

Neurology. 2015 Nov 10;85(19):e143-4. doi: 10.1212/WNL.0000000000002108. No abstract available.

16.

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.

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

17.

7α-hydroxy-3-oxo-4-cholestenoic acid in cerebrospinal fluid reflects the integrity of the blood-brain barrier.

Saeed A, Floris F, Andersson U, Pikuleva I, Lövgren-Sandblom A, Bjerke M, Paucar M, Wallin A, Svenningsson P, Björkhem I.

J Lipid Res. 2014 Feb;55(2):313-8. doi: 10.1194/jlr.P044982. Epub 2013 Dec 8.

18.

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.

Paucar M, Xiang F, Moore R, Walker R, Winnberg E, Svenningsson P.

Prion. 2013 Nov-Dec;7(6):501-10. Epub 2013 Nov 25.

19.

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.

PLoS One. 2013 Aug 6;8(8):e70560. doi: 10.1371/journal.pone.0070560. Print 2013.

20.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PMID:
23913003
21.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G.

Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

22.

Persistence of viral RNA in the brain of offspring to mice infected with influenza A/WSN/33 virus during pregnancy.

Aronsson F, Lannebo C, Paucar M, Brask J, Kristensson K, Karlsson H.

J Neurovirol. 2002 Aug;8(4):353-7.

PMID:
12161820

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