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 365 artículos Viendo del 1 al 40 de 365 artículos
Pub MED

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.NUEVO

Schoenaker MHD, Van Os NJH, Van der Flier M, Van Deuren M, Seyger MM, Taylor AMR, Weemaes CMR, Willemsen MAAP.
Eur J Med Genet. 2017 Dec 26. pii: S1769-7212(17)30490-1. doi: 10.1016/j.ejmg.2017.12.012. [Epub ahead of print]
Pub MED

Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway.NUEVO

Wu YL, Chang JC, Lin WY, Li CC, Hsieh M, Chen HW, Wang TS, Wu WT, Liu CS, Liu KL.
Free Radic Biol Med. 2017 Dec 13;115:309-317. doi: 10.1016/j.freeradbiomed.2017.12.011. [Epub ahead of print]
Pub MED

Acute Cerebellar Ataxia Induced by Nivolumab.NUEVO

Kawamura R, Nagata E, Mukai M, Ohnuki Y, Matsuzaki T, Ohiwa K, Nakagawa T, Kohno M, Masuda R, Iwazaki M, Takizawa S.
Intern Med. 2017;56(24):3357-3359. doi: 10.2169/internalmedicine.8895-17. Epub 2017 Dec 15.
Pub MED

Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker.NUEVO

Rodríguez-Labrada R, Vázquez-Mojena Y, Canales-Ochoa N, Medrano-Montero J, Velázquez-Pérez L.
Cerebellum Ataxias. 2017 Dec 19;4:19. doi: 10.1186/s40673-017-0078-2. eCollection 2017.
Pub MED

Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.NUEVO

Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros CA, Lynch DR, Blair IA.
Anal Chem. 2017 Dec 22. doi: 10.1021/acs.analchem.7b04590. [Epub ahead of print]
Pub MED

Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.NUEVO

Dittmer KE, Jolly RD, Mayhew IG, Ridler AL, Chernyavtseva A, Garrick DJ, Blair HT.
PLoS One. 2017 Dec 18;12(12):e0190030. doi: 10.1371/journal.pone.0190030. eCollection 2017.
Pub MED

HIV-associated opsoclonus-myoclonus-ataxia syndrome: early infection, immune reconstitution syndrome or secondary to other diseases? Case report and literature review.NUEVO

Guedes BF, Vieira Filho MAA, Listik C, Carra RB, Pereira CB, Silva ERD, Gomes HR, Vidal JE.
J Neurovirol. 2017 Dec 14. doi: 10.1007/s13365-017-0603-3. [Epub ahead of print]
Pub MED

[Spasticity and progressive ataxia due to vanishing white matter].NUEVO

Paez-Granda D, Jimenez-Sanchez A, Fernandez-Hernandez C, Serrano-Garcia C.
Rev Neurol. 2017 Dec 16;65(12):563-564. Spanish.
Pub MED

POLR3A variants in hereditary spastic paraplegia and ataxia.NUEVO

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.
Brain. 2017 Dec 8. doi: 10.1093/brain/awx290. [Epub ahead of print] No abstract available.
Pub MED

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?NUEVO

Boivin M, Willemsen R, Hukema RK, Sellier C.
Eur J Med Genet. 2017 Dec 6. pii: S1769-7212(17)30396-8. doi: 10.1016/j.ejmg.2017.11.001. [Epub ahead of print] Review.
Pub MED

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.NUEVO

Ferro A, Carbone E, Zhang J, Marzouk E, Villegas M, Siegel A, Nguyen D, Possidente T, Hartman J, Polley K, Ingram MA, Berry G, Reynolds TH, Possidente B, Frederick K, Ives S, Lagalwar S.
PLoS One. 2017 Dec 6;12(12):e0188425. doi: 10.1371/journal.pone.0188425. eCollection 2017.
Pub MED

A novel mutation in SLC1A3 causes episodic ataxia.NUEVO

Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N.
J Hum Genet. 2017 Dec 5. doi: 10.1038/s10038-017-0365-z. [Epub ahead of print]
Pub MED

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).NUEVO

Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ.
BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4.
Pub MED

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.NUEVO

Al-Muhaizea MA, AlMutairi F, Almass R, AlHarthi S, Aldosary MS, Alsagob M, AlOdaib A, Colak D, Kaya N.
Cerebellum. 2017 Dec 1. doi: 10.1007/s12311-017-0893-2. [Epub ahead of print]
Pub MED

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.NUEVO

Galatolo D, Tessa A, Filla A, Santorelli FM.
Neurogenetics. 2017 Dec 6. doi: 10.1007/s10048-017-0532-6. [Epub ahead of print] Review.
Pub MED

Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management.NUEVO

Upadhyaya SA, Mody R, Walkovich K, Hutchinson RJ, Sandlund JT, Connelly JA.
J Pediatr Hematol Oncol. 2017 Dec 1. doi: 10.1097/MPH.0000000000001005. [Epub ahead of print]
Pub MED

Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area.NUEVO

Sakurai Y, Fujimoto M, Hamada K, Sugimoto I.
Cogn Neuropsychiatry. 2017 Dec 2:1-14. doi: 10.1080/13546805.2017.1407304. [Epub ahead of print]
Pub MED

The role of oxidative stress in Friedreich's ataxia.NUEVO

Lupoli F, Vannocci T, Longo G, Niccolai N, Pastore A.
FEBS Lett. 2017 Dec 2. doi: 10.1002/1873-3468.12928. [Epub ahead of print] Review.
Pub MED

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.NUEVO

Wang L, Hao Y, Yu P, Cao Z, Zhang J, Zhang X, Chen Y, Zhang H, Gu W.
Cerebellum. 2017 Dec 1. doi: 10.1007/s12311-017-0896-z. [Epub ahead of print]
Pub MED

T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib).NUEVO

Li G, Waite E, Wolfson J.
Blood Adv. 2017 Dec 18;1(27):2724-2728. doi: 10.1182/bloodadvances.2017010470. eCollection 2017 Dec 26.
Pub MED

Experimental and Clinical Strategies for Treating Spinocerebellar Ataxia Type 3.NUEVO

Wang Z.
Neuroscience. 2017 Dec 8;371:138-154. doi: 10.1016/j.neuroscience.2017.11.051. [Epub ahead of print] Review.
Pub MED

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).NUEVO

Jerath NU, Shy ME.
J Neuromuscul Dis. 2017 Dec 20. doi: 10.3233/JND-170229. [Epub ahead of print]
Pub MED

Calcium Channel Autoimmunity: Cerebellar Ataxia and Lambert-Eaton Syndrome Coexisting.NUEVO

Zalewski N, Lennon VA, Pittock SJ, McKeon A.
Muscle Nerve. 2017 Dec 22. doi: 10.1002/mus.26053. [Epub ahead of print]
Pub MED

Expanding spectrum of contactin-associated protein 2 (CASPR2) autoimmunity-syndrome of parkinsonism and ataxia.NUEVO

Kannoth S, Nambiar V, Gopinath S, Anandakuttan A, Mathai A, Rajan PK.
Neurol Sci. 2017 Dec 20. doi: 10.1007/s10072-017-3222-0. [Epub ahead of print]
Pub MED

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.NUEVO

Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M.
PLoS One. 2017 Dec 19;12(12):e0189990. doi: 10.1371/journal.pone.0189990. eCollection 2017.
Pub MED

Microglial Activation on 11C-CB184 PET in a Patient With Cerebellar Ataxia Associated With HIV Infection.NUEVO

Ishibashi K, Miura Y, Imamura A, Toyohara J, Ishii K.
Clin Nucl Med. 2017 Dec 19. doi: 10.1097/RLU.0000000000001936. [Epub ahead of print]
Pub MED

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.NUEVO

Lin H, Magrane J, Clark EM, Halawani SM, Warren N, Rattelle A, Lynch DR.
Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.
Pub MED

Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.NUEVO

Chandran V, Gao K, Swarup V, Versano R, Dong H, Jordan MC, Geschwind DH.
Elife. 2017 Dec 19;6. pii: e30054. doi: 10.7554/eLife.30054.
Pub MED

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.NUEVO

Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP.
Cerebellum. 2017 Dec 16. doi: 10.1007/s12311-017-0909-y. [Epub ahead of print]
Pub MED

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood.NUEVO

Gousse G, Patural H, Touraine R, Chabrier S, Rolland E, Antoine JC, Perrin L.
Arch Pediatr. 2017 Dec 13. pii: S0929-693X(17)30466-9. doi: 10.1016/j.arcped.2017.09.029. [Epub ahead of print]
Pub MED

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.NUEVO

Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A.
Brain. 2017 Dec 11. doi: 10.1093/brain/awx291. [Epub ahead of print] No abstract available.
Pub MED

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.NUEVO

Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F.
Am J Kidney Dis. 2017 Dec 7. pii: S0272-6386(17)31014-4. doi: 10.1053/j.ajkd.2017.09.020. [Epub ahead of print]
Pub MED

Bone marrow transplantation improves motor activity in a mouse model of ataxia.NUEVO

Díaz D, Piquer-Gil M, Recio JS, Martínez-Losa MM, Alonso JR, Weruaga E, Álvarez-Dolado M.
J Tissue Eng Regen Med. 2017 Dec 8. doi: 10.1002/term.2626. [Epub ahead of print]
Pub MED

A systematic review of the gait characteristics associated with Cerebellar Ataxia.NUEVO

Buckley E, Mazzà C, McNeill A.
Gait Posture. 2017 Dec 1;60:154-163. doi: 10.1016/j.gaitpost.2017.11.024. [Epub ahead of print] Review.
Pub MED

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.NUEVO

Choudry TN, Hilton-Jones D, Lennox G, Houlden H.
Pract Neurol. 2017 Dec 6. pii: practneurol-2017-001711. doi: 10.1136/practneurol-2017-001711. [Epub ahead of print]
Pub MED

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

Taki M, Nakamura T, Matsuura H, Hasegawa T, Sakaguchi H, Morita K, Ishii R, Mizuta I, Kasai T, Mizuno T, Hirano S.
Auris Nasus Larynx. 2017 Oct 28. pii: S0385-8146(17)30634-X. doi: 10.1016/j.anl.2017.10.008. [Epub ahead of print]
Pub MED

Clinical Reasoning: A case of ataxia, seizure, and choreoathetosis in a 34-year-old woman.

Xiao F, Wang XF.
Neurology. 2017 Oct 31;89(18):e220-e223. doi: 10.1212/WNL.0000000000004599. No abstract available.
Pub MED

[Administering BARS in children with ataxia in a children rehabilitation center in Chiapas, Mexico].

Perdomo-Rebollo FG, Kleinert-Altamirano API.
Rev Med Inst Mex Seguro Soc. 2017 Nov-Dec;55(6):715-719. Spanish.
Pub MED

Personality and Neuropsychological Profiles in Friedreich Ataxia.

Sayah S, Rotgé JY, Francisque H, Gargiulo M, Czernecki V, Justo D, Lahlou-Laforet K, Hahn V, Pandolfo M, Pelissolo A, Fossati P, Durr A.
Cerebellum. 2017 Oct 30. doi: 10.1007/s12311-017-0890-5. [Epub ahead of print]
Pub MED

Recurrent Dysarthria and Ataxia in a Young Girl.

Romba M, González-Giraldo E, Levy M.
JAMA Neurol. 2017 Oct 30. doi: 10.1001/jamaneurol.2017.3085. [Epub ahead of print] No abstract available.
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