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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

370 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Progress in the treatment of Friedreich ataxia.

Tai G, Corben LA, Yiu EM, Milne SC, Delatycki MB.

Neurol Neurochir Pol. 2018 Mar;52(2):129-139. doi: 10.1016/j.pjnns.2018.02.003. Epub 2018 Feb 19. Review.

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PUBMED

PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in Spinocerebellar ataxia type 1.

Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Garcia J, Park J, Orr HT, Botas J, Zoghbi HY.

Hum Mol Genet. 2018 May 30. doi: 10.1093/hmg/ddy200. [Epub ahead of print]

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PUBMED

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia.

Takazaki KAG, Rezende TJR, Martinez ARM, Gonzalez-Salazar C, Nucci A, Lopes-Cendes I, França MC Jr.

Clin Neurophysiol. 2018 Aug 31;129(11):2290-2295. doi: 10.1016/j.clinph.2018.08.017. [Epub ahead of print]

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PUBMED

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 Mar 12. doi: 10.1007/s12311-018-0927-4. [Epub ahead of print]

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A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Krygier M, Kwarciany M, Wasilewska K, Murcia Pienkowski V, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzani

Clin Genet. 2018 Dec 11. doi: 10.1111/cge.13489. [Epub ahead of print]

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PUBMED

Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity.

Torres-Ramos Y, Montoya-Estrada A, Cisneros B, Tercero-Pérez K, León-Reyes G, Leyva-García N, Hernández-Hernández O, Magaña JJ.

Cerebellum. 2018 Jun 6. doi: 10.1007/s12311-018-0947-0. [Epub ahead of print]

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From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.

Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z.

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PUBMED

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.

Cid-Samper F, Gelabert-Baldrich M, Lang B, Lorenzo-Gotor N, Ponti RD, Severijnen LWFM, Bolognesi B, Gelpi E, Hukema RK, Botta-Orfila T, Tartaglia GG.

Cell Rep. 2018 Dec 18;25(12):3422-3434.e7. doi: 10.1016/j.celrep.2018.11.076.

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PUBMED

Rehabilitation Course and Specification of Dysmetria of a Patient With Ataxia, Dysmetria, and Hemiparesis After a Stroke in the Corona Radiata: A Case Presentation.

Mohar M, Hartman K, Long B, Lee P, Didita A, Altschuler EL.

PM R. 2018 Feb 6. pii: S1934-1482(18)30058-3. doi: 10.1016/j.pmrj.2018.01.008. [Epub ahead of print]

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PUBMED

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.

Costabile T, Capretti V, Abate F, Liguori A, Paciello F, Pane C, De Rosa A, Peluso S, De Michele G, Filla A, Saccà F.

Cerebellum. 2018 Jan 11. doi: 10.1007/s12311-018-0918-5. [Epub ahead of print]

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PUBMED

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

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PUBMED

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.

Krauthammer A, Lahad A, Sarouk Y, Somech R, Nissenkorn A, Modan-Moses D, Levi-Kidron H, Sadeh-Kon T, Weiss B.

Nutrition. 2018 Feb;46:48-52. doi: 10.1016/j.nut.2017.08.008. Epub 2017 Aug 24.

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PUBMED

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.

Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Taniwaki T, Shibata H.

Eur J Med Genet. 2018 Jul 11. pii: S1769-7212(18)30142-3. doi: 10.1016/j.ejmg.2018.07.005. [Epub ahead of print]

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PUBMED

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations.

Ramos A, Planchat M, Vieira Melo AR, Raposo M, Shamim U, Suroliya V, Srivastava AK, Faruq M, Morino H, Ohsawa R, Kawakami H, Jardim LB, Saraiva-Pereira ML, Vasconcelos J, Santos C, Lima M.

Eur J Neurol. 2018 Nov 10. doi: 10.1111/ene.13860. [Epub ahead of print]

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