Bibliografía científicaBibliografía científica

En esta sección encontrará una selección de las publicaciones científicas sobre los Trastornos del Movimiento para los 11 diferentes tipos establecidos por la International Parkinson & Movement Disorder Society. Se han seleccionado sólo aquellas publicaciones que presenten el término de búsqueda en el título (inglés).

Los artículos presentados incluyen aquellos publicados desde enero de 2010. El listado de publicaciones de actualizará mensualmente. Si lo desea, puede recibir una alerta de la actualización por correo electrónico. Para ello ha de registrarse.

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Ataxia Ataxia 269 artículos Viendo del 1 al 40 de 269 artículos
Pub MED

B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection.NUEVO

Darrah EJ, Kulinski JM, Mboko WP, Xin G, Malherbe LP, Gauld SB, Cui W, Tarakanova VL.
J Virol. 2017 Sep 12;91(19). pii: e01103-17. doi: 10.1128/JVI.01103-17. Print 2017 Oct 1.
Pub MED

Trunk-lower limb coordination pattern during gait in patients with ataxia.NUEVO

Caliandro P, Iacovelli C, Conte C, Simbolotti C, Rossini PM, Padua L, Casali C, Pierelli F, Reale G, Serrao M.
Gait Posture. 2017 Sep;57:252-257. doi: 10.1016/j.gaitpost.2017.06.267. Epub 2017 Jun 27.
Pub MED

Spinocerebellar ataxia type 2 associated with amyotrophic lateral sclerosis.NUEVO

Singh RK, Sonkar KK, Bhoi S, Kalita J, Misra U.
Neurol India. 2017 Sep-Oct;65(5):1153-1155. doi: 10.4103/neuroindia.NI_910_16. No abstract available.
Pub MED

Spinocerebellar ataxia: a critical review of cognitive and socio-cognitive deficits.NUEVO

Giocondo F, Curcio G.
Int J Neurosci. 2017 Sep 22:1-10. doi: 10.1080/00207454.2017.1377198. [Epub ahead of print]
Pub MED

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)(n) Repeats Associated with Friedreich's Ataxia.NUEVO

McGinty RJ, Puleo F, Aksenova AY, Hisey JA, Shishkin AA, Pearson EL, Wang ET, Housman DE, Moore C, Mirkin SM.
Cell Rep. 2017 Sep 5;20(10):2490-2500. doi: 10.1016/j.celrep.2017.08.051.
Pub MED

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study.NUEVO

Bui HT, Audet O, Mathieu J, Gagnon C, Leone M.
J Neurol Sci. 2017 Sep 15;380:68-73. doi: 10.1016/j.jns.2017.07.013. Epub 2017 Jul 9.
Pub MED

Case 1: Fever and Ataxia in a Toddler with Pica.NUEVO

Tucker MH, Holmes J, Harley S, Garcia MR, Custodio H.
Pediatr Rev. 2017 Sep;38(9):435-436. doi: 10.1542/pir.2016-0189. No abstract available.
Pub MED

Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes.NUEVO

Ramani B, Panwar B, Moore LR, Wang B, Huang R, Guan Y, Paulson HL.
Hum Mol Genet. 2017 Sep 1;26(17):3362-3374. doi: 10.1093/hmg/ddx224.
Pub MED

Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.NUEVO

Yang Y, Yang S, Guo J, Cui Y, Tang B, Li XJ, Li S.
J Neurosci. 2017 Sep 20;37(38):9101-9115. doi: 10.1523/JNEUROSCI.0111-17.2017. Epub 2017 Aug 18.
Pub MED

Unilateral Oculomotor Nerve Palsy Following Campylobacter Infection: A Mild Form of Miller Fisher Syndrome without Ataxia.NUEVO

Ueno T, Kon T, Kurihara AI, Tomiyama M.
Intern Med. 2017 Sep 25. doi: 10.2169/internalmedicine.8824-17. [Epub ahead of print]
Pub MED

Molecular Alterations in a Mouse Cardiac Model of Friedreich's Ataxia: An Impaired Nrf2 Response Mediated via Up-Regulation of Keap1 and Activation of the Gsk3β Axis.NUEVO

Anzovino A, Chiang S, Brown BE, Hawkins CL, Richardson DR, Huang ML.
Am J Pathol. 2017 Sep 18. pii: S0002-9440(17)30631-4. doi: 10.1016/j.ajpath.2017.08.021. [Epub ahead of print]
Pub MED

Therapeutic plasma exchange for a case of refractory opsoclonus myoclonus ataxia syndrome.NUEVO

Greensher JE, Louie J, Fish JD.
Pediatr Blood Cancer. 2017 Sep 19. doi: 10.1002/pbc.26819. [Epub ahead of print]
Pub MED

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice.NUEVO

Toonen LJA, Rigo F, van Attikum H, van Roon-Mom WMC.
Mol Ther Nucleic Acids. 2017 Sep 15;8:232-242. doi: 10.1016/j.omtn.2017.06.019. Epub 2017 Jun 29.
Pub MED

Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs.NUEVO

Matsuzono K, Imamura K, Murakami N, Tsukita K, Yamamoto T, Izumi Y, Kaji R, Ohta Y, Yamashita T, Abe K, Inoue H.
Mol Ther Nucleic Acids. 2017 Sep 15;8:211-219. doi: 10.1016/j.omtn.2017.06.017. Epub 2017 Jun 23.
Pub MED

Treatment with Caffeic Acid and Resveratrol Alleviates Oxidative Stress Induced Neurotoxicity in Cell and Drosophila Models of Spinocerebellar Ataxia Type3.NUEVO

Wu YL, Chang JC, Lin WY, Li CC, Hsieh M, Chen HW, Wang TS, Liu CS, Liu KL.
Sci Rep. 2017 Sep 14;7(1):11641. doi: 10.1038/s41598-017-11839-0.
Pub MED

The Multiple Faces of Spinocerebellar Ataxia type 2.NUEVO

Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Saccà F, Peluso S, De Michele G, Filla A.
Ann Clin Transl Neurol. 2017 Aug 10;4(9):687-695. doi: 10.1002/acn3.437. eCollection 2017 Sep. Review.
Pub MED

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.NUEVO

McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE.
Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.
Pub MED

Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats.NUEVO

Hu F, Liu C, Liu H, Xie L, Yu L.
Med Sci Monit. 2017 Sep 12;23:4391-4400.
Pub MED

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.NUEVO

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH.
Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005.
Pub MED

Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?NUEVO

Budimirovic DB.
Neurotherapeutics. 2017 Sep 7. doi: 10.1007/s13311-017-0569-0. [Epub ahead of print] No abstract available.
Pub MED

Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia.NUEVO

Rentiya ZS, Jung BC, Bae J, Liszewski CM, Fishman A, Du AX, Margolis RL, Ying SH.
Arch Clin Neuropsychol. 2017 Sep 7:1-10. doi: 10.1093/arclin/acx077. [Epub ahead of print]
Pub MED

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches.NUEVO

Velázquez-Pérez LC, Rodríguez-Labrada R, Fernandez-Ruiz J.
Front Neurol. 2017 Sep 11;8:472. doi: 10.3389/fneur.2017.00472. eCollection 2017. Review.
Pub MED

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.NUEVO

Lad M, Parkinson MH, Rai M, Pandolfo M, Bogdanova-Mihaylova P, Walsh RA, Murphy S, Emmanuel A, Panicker J, Giunti P.
Orphanet J Rare Dis. 2017 Sep 26;12(1):158. doi: 10.1186/s13023-017-0709-y.
Pub MED

Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient Induced Pluripotent Stem Cells.NUEVO

Bavassano C, Eigentler A, Stanika R, Obermair GJ, Boesch S, Dechant G, Nat R.
Stem Cells Dev. 2017 Sep 25. doi: 10.1089/scd.2017.0085. [Epub ahead of print]
Pub MED

Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.

Becker AB, Qian J, Gelman BB, Yang M, Bauer P, Koeppen AH.
J Neuropathol Exp Neurol. 2017 Aug 1;76(8):665-675. doi: 10.1093/jnen/nlx047.
Pub MED

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia.

Chiang S, Kalinowski DS, Jansson PJ, Richardson DR, Huang ML.
Neurochem Int. 2017 Aug 4. pii: S0197-0186(17)30371-6. doi: 10.1016/j.neuint.2017.08.002. [Epub ahead of print]
Pub MED

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort.

Sakakibara R, Tateno F, Kishi M, Tsuyusaki Y, Aiba Y, Terada H, Inaoka T, Sawai S, Kuwabara S, Nomura F.
J Mov Disord. 2017 Aug 8. doi: 10.14802/jmd.17011. [Epub ahead of print]
Pub MED

Hypothyroid ataxia complicating monoclonal antibody therapy.

Badran A, Moran C, Coles AJ.
Pract Neurol. 2017 Aug 4. pii: practneurol-2017-001713. doi: 10.1136/practneurol-2017-001713. [Epub ahead of print]
Pub MED

Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

Paulino TL, Rafael MN, Hix S, Shigueoka DC, Ajzen SA, Kochi C, Suano-Souza FI, da Silva R, Costa-Carvalho BT, Sarni ROS.
Orphanet J Rare Dis. 2017 Aug 4;12(1):136. doi: 10.1186/s13023-017-0689-y.
Pub MED

Ataxia and Headache in a Child: A Case of Acute Cerebellar Infarction.

Hewett KM, Lorenzetti B, Jackson BF.
Pediatr Emerg Care. 2017 Aug;33(8):570-572. doi: 10.1097/PEC.0000000000001216.
Pub MED

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D.
Am J Med Genet B Neuropsychiatr Genet. 2017 Aug 2. doi: 10.1002/ajmg.b.32570. [Epub ahead of print]
Pub MED

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

Tabatabaiefar MA, Alipour P, Pourahmadiyan A, Fattahi N, Shariati L, Golchin N, Mohammadi-Asl J.
J Neurol Sci. 2017 Aug 15;379:212-216. doi: 10.1016/j.jns.2017.06.012. Epub 2017 Jun 12.
Pub MED

The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia.

Lee WJ, Moon J, Kim TJ, Jun JS, Lee HS, Ryu YJ, Lee ST, Jung KH, Park KI, Jung KY, Kim M, Lee SK, Chu K.
J Neuroimmunol. 2017 Aug 15;309:82-87. doi: 10.1016/j.jneuroim.2017.05.015. Epub 2017 May 24.
Pub MED

From dizziness to severe ataxia and dysarthria: New cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum.

Wallwitz U, Brock S, Schunck A, Wildemann B, Jarius S, Hoffmann F.
J Neuroimmunol. 2017 Aug 15;309:77-81. doi: 10.1016/j.jneuroim.2017.05.011. Epub 2017 May 22.
Pub MED

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
Neurol Neurochir Pol. 2017 Aug 17. pii: S0028-3843(17)30244-X. doi: 10.1016/j.pjnns.2017.08.003. [Epub ahead of print]
Pub MED

The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.

Xu Y, Gao P, Lv X, Zhang L, Zhang J.
Ther Adv Respir Dis. 2017 Aug 1:1753465817725716. doi: 10.1177/1753465817725716. [Epub ahead of print]
Pub MED

Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration.

van der Stijl R, Withoff S, Verbeek DS.
Neurobiol Dis. 2017 Aug 17. pii: S0969-9961(17)30188-2. doi: 10.1016/j.nbd.2017.08.003. [Epub ahead of print] Review.
Pub MED

Cerebral Abnormalities in Friedreich Ataxia: A Review.

Selvadurai LP, Harding IH, Corben LA, Georgiou-Karistianis N.
Neurosci Biobehav Rev. 2017 Aug 17. pii: S0149-7634(17)30186-0. doi: 10.1016/j.neubiorev.2017.08.006. [Epub ahead of print] Review.
Pub MED

Home-cage anxiety levels in a transgenic rat model for Spinocerebellar Ataxia type 17 measured by an approach-avoidance task: the light spot test.

Kyriakou EI, Nguyen HP, Homberg JR, Van der Harst JE.
J Neurosci Methods. 2017 Aug 17. pii: S0165-0270(17)30293-5. doi: 10.1016/j.jneumeth.2017.08.012. [Epub ahead of print]
Pub MED

[Gluten Ataxia: Anti-Transglutaminase-6 Antibody as a New Biomarker].

Sato K, Nanri K.
Brain Nerve. 2017 Aug;69(8):933-940. doi: 10.11477/mf.1416200845. Japanese.
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