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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

488 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Man with Ataxia and Aortic Mass.

Ehmann MR, Kelly GS.

J Emerg Med. 2016 Nov 14. pii: S0736-4679(16)30880-0. doi: 10.1016/j.jemermed.2016.10.005. [Epub ahead of print] No abstract available.

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Progression of Friedreich ataxia: quantitative characterization over 5 years.

Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Br

Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332.

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PUBMED

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A.

PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429.

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PUBMED

Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6.

Jayabal S, Ljungberg L, Watt AJ.

J Physiol. 2016 Aug 17. doi: 10.1113/JP273184. [Epub ahead of print]

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Treatment with a Ginkgo biloba extract, EGb 761, inhibits excitotoxicity in an animal model of spinocerebellar ataxia type 17.

Huang DS, Lin HY, Lee-Chen GJ, Hsieh-Li HM, Wu CH, Lin JY.

Drug Des Devel Ther. 2016 Feb 18;10:723-31. doi: 10.2147/DDDT.S98156.

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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Nicastro N, Ranza E, Antonarakis SE, Horvath J.

Cerebellum. 2016 Dec;15(6):829-831.

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PUBMED

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.

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Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia.

D'Assante R, Fusco A, Palamaro L, Polishchuk E, Polishchuk R, Bianchino G, Grieco V, Prencipe MR, Ballabio A, Pignata C.

Clin Immunol. 2016 Nov 30;175:16-25. doi: 10.1016/j.clim.2016.11.015. [Epub ahead of print]

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Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR.

J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408.

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Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium., Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M.

Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. No abstract available.

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Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.

Martinez AR, Moro A, Abrahao A, Faber I, Borges CR, Rezende TJ, Martins CR Jr, Moscovich M, Munhoz RP, Segal SL, Arruda WO, Saraiva-Pereira ML, Karuta S, Pedroso JL, D'Abreu A, Jardim LB, Lopes-Cendes

Cerebellum. 2016 Jan 11. [Epub ahead of print]

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PUBMED

The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila.

Tripathi BK, Surabhi S, Bhaskar PK, Mukherjee A, Mutsuddi M.

Biochim Biophys Acta. 2016 Sep;1862(9):1732-41. doi: 10.1016/j.bbadis.2016.06.008.

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PUBMED

[Hyponatremia, alcohol and ataxia].

Travert B, Vaquier G, Venon MD, Trad S, Greffe S, Rouveix E, Hanslik T.

Rev Med Interne. 2016 Feb;37(2):144-6. doi: 10.1016/j.revmed.2015.06.008. French. No abstract available.

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A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O.

Neurogenetics. 2016 Oct;17(4):219-225.

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