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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

Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice.

Calatrava-Ferreras L, Gonzalo-Gobernado R, Reimers D, Herranz AS, Casarejos MJ, Jiménez-Escrig A, Regadera J, Velasco-Martín J, Vallejo-Muñoz M, Díaz-Gil JJ, Bazán E.

Int J Mol Sci. 2016 Dec 9;17(12). pii: E2066.

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PUBMED

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.

Raposo M, Bettencourt C, Ramos A, Kazachkova N, Vasconcelos J, Kay T, Bruges-Armas J, Lima M.

Neuromolecular Med. 2016 May 31. [Epub ahead of print]

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PUBMED

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA.

Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003.

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PUBMED

NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family.

Stubbe C, Bogdanova-Mihaylova P, Austin N, Murphy S, Walsh R.

QJM. 2016 Aug;109(8):551-2. doi: 10.1093/qjmed/hcw066. No abstract available.

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PUBMED

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Tipton PW, Guthrie K, Strongosky A, Reimer R, Wszolek ZK.

Neurol Neurochir Pol. 2016 Nov 10. pii: S0028-3843(16)30203-1. doi: 10.1016/j.pjnns.2016.10.006. [Epub ahead of print] Review.

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PUBMED

Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6.

Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, van de Warrenburg BP, Pedersen K, Depondt C, Rola R, Klockgether T, García A, Mutlu G, Schöls L.

Cerebellum. 2016 Apr;15(2):165-73. doi: 10.1007/s12311-015-0684-6.

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PUBMED

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.

Cazzato D, Dalla Bella E, Dacci P, Mariotti C, Lauria G.

J Neurol. 2016 Feb;263(2):245-9. doi: 10.1007/s00415-015-7951-9.

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PUBMED

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.

Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M.

Biopreserv Biobank. 2016 Aug;14(4):324-9. doi: 10.1089/bio.2015.0117.

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PUBMED

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

Yoon G, Delague V, Mégarbané A, Isaya G.

Brain. 2016 Mar;139(Pt 3):e20. doi: 10.1093/brain/awv363. No abstract available.

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PUBMED

Small Molecule Recognition and Tools to Study Modulation of r(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome.

Yang WY, He F, Strack RL, Oh SY, Frazer M, Jaffrey SR, Todd PK, Disney MD.

ACS Chem Biol. 2016 Sep 16;11(9):2456-65. doi: 10.1021/acschembio.6b00147.

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PUBMED

Successful treatment of paroxysmal ataxia and dysarthria in multiple sclerosis with levetiracetam.

Goodwin SJ, Carpenter AF.

Mult Scler Relat Disord. 2016 Nov;10:79-81. doi: 10.1016/j.msard.2016.09.003.

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PUBMED

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.

Stefely JA, Licitra F, Laredj L, Reidenbach AG, Kemmerer ZA, Grangeray A, Jaeg-Ehret T, Minogue CE, Ulbrich A, Hutchins PD, Wilkerson EM, Ruan Z, Aydin D, Hebert AS, Guo X, Freiberger EC, Reutenauer L

Mol Cell. 2016 Aug 18;63(4):608-20. doi: 10.1016/j.molcel.2016.06.030.

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PUBMED

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.

da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D'Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, T

Cerebellum. 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z.

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PUBMED

Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia.

Milne SC, Corben LA, Yiu E, Delatycki MB, Georgiou-Karistianis N.

J Clin Neurosci. 2016 Jul;29:29-34. doi: 10.1016/j.jocn.2016.01.011.

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PUBMED

Oxidative stress and altered lipid metabolism in Friedreich ataxia.

Tamarit J, Obis È, Ros J.

Free Radic Biol Med. 2016 Nov;100:138-146. doi: 10.1016/j.freeradbiomed.2016.06.007. Review.

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