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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará la selección de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por International Parkinson & Movement Disorder Society.

Ataxia

1682 ARTíCULOS , VIENDO DEL 91 AL 105

PUBMED

First-in-Man Craniectomy and Asportation of Solitary Cerebellar Metastasis in COVID-19 Patient: A Case Report

Lapolla P, Familiari P, Bruzzaniti P, Arcese R, Matassa R, Frati A, D'Andrea G, Santoro A.

Int J Surg Case Rep. 2020 Nov 21. doi: 10.1016/j.ijscr.2020.11.102. Online ahead of print.

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Myosin Va Brain-Specific Mutation Alters Mouse Behavior and Disrupts Hippocampal Synapses

Pandian S, Zhao JP, Bustos FJ, Tunca C, Almeida RD, Constantine-Paton M, Murata Y.

eNeuro. 2020 Nov 23:ENEURO.0284-20.2020. doi: 10.1523/ENEURO.0284-20.2020. Online ahead of print.

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RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context

Jazurek-Ciesiolka M, Ciesiolka A, Komur AA, Urbanek-Trzeciak MO, Krzyzosiak WJ, Fiszer A.

J Mol Biol. 2020 Dec 4;432(24):166699. doi: 10.1016/j.jmb.2020.10.033. Epub 2020 Nov 4.

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Dysarthria and ptosis

Matthews R, Mirza F, Siripurapu R, Ramdass R, Varma AR, Mohanraj R.

Pract Neurol. 2020 Nov 28:practneurol-2020-002647. doi: 10.1136/practneurol-2020-002647. Online ahead of print.

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Central Nervous System Therapeutic Targets in Friedreich Ataxia

Harding IH, Lynch DR, Koeppen AH, Pandolfo M.

Hum Gene Ther. 2020 Dec;31(23-24):1226-1236. doi: 10.1089/hum.2020.264.

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A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

Manini A, Bocci T, Migazzi A, Monfrini E, Ronchi D, Franco G, De Rosa A, Sartucci F, Priori A, Corti S, Comi GP, Bresolin N, Basso M, Di Fonzo A.

BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.

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Cerebral dopamine neurotrophic factor (CDNF) protects against quinolinic acid-induced toxicity in in vitro and in vivo models of Huntington's disease

Stepanova P, Srinivasan V, Lindholm D, Voutilainen MH.

Sci Rep. 2020 Nov 5;10(1):19045. doi: 10.1038/s41598-020-75439-1.

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Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

Tinnevelt GH, Engelke UFH, Wevers RA, Veenhuis S, Willemsen MA, Coene KLM, Kulkarni P, Jansen JJ.

Metabolites. 2020 Nov 17;10(11):470. doi: 10.3390/metabo10110470.

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Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man

Vale TC, Povoas Barsottini OG, Pedroso JL.

Parkinsonism Relat Disord. 2020 Nov 10:S1353-8020(20)30856-7. doi: 10.1016/j.parkreldis.2020.11.006. Online ahead of print.

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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G; Undiagnosed Diseases Network, Ferreira CR, Zein WM, Tifft CJ, Adams DR.

Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7.

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Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism

Agrò M, Díaz-Nido J.

Int J Mol Sci. 2020 Nov 4;21(21):8251. doi: 10.3390/ijms21218251.

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[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era]

Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez JC, Tomás-Vila M, Martínez-Castellano F.

Rev Neurol. 2020 Nov 16;71(10):373-376. doi: 10.33588/rn.7110.2020520.

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Dual genome-wide CRISPR knockout and CRISPR activation screens identify mechanisms that regulate the resistance to multiple ATR inhibitors

Schleicher EM, Dhoonmoon A, Jackson LM, Clements KE, Stump CL, Nicolae CM, Moldovan GL.

PLoS Genet. 2020 Nov 2;16(11):e1009176. doi: 10.1371/journal.pgen.1009176. eCollection 2020 Nov.

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ERK activation precedes Purkinje cell loss in mice with Spinocerebellar ataxia type 17

Lin CW, Fan CH, Chang YC, Hsieh-Li HM.

Neurosci Lett. 2020 Nov 1;738:135337. doi: 10.1016/j.neulet.2020.135337. Epub 2020 Aug 30.

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[Genomic profiling and personalized approach, utopia or future reality? A clinical case.]

Antonelli G, Ferraù F.

Recenti Prog Med. 2020 Nov;111(11):33e-37e. doi: 10.1701/3474.34581.

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