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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

Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.

Di Siena S, Campolo F, Gimmelli R, Di Pietro C, Marazziti D, Dolci S, Lenzi A, Nussenzweig A, Pellegrini M.

Cell Death Dis. 2018 Feb 22;9(3):314. doi: 10.1038/s41419-018-0357-8.

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PUBMED

Reply: PLD3 and spinocerebellar ataxia.

Ma KY, Verbeek DS.

Brain. 2018 Nov 1;141(11):e79. doi: 10.1093/brain/awy259. No abstract available.

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PUBMED

Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner.

Kim JH, Lukowicz A, Qu W, Johnson A, Cvetanovic M.

Glia. 2018 Jul 25. doi: 10.1002/glia.23451. [Epub ahead of print]

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PUBMED

Bidirectional Connections between Depression and Ataxia Severity in Spinocerebellar Ataxia Type 3 Patients.

Lin MT, Yang JS, Chen PP, Qian MZ, Lin HX, Chen XP, Shang XJ, Wang DN, Chen YC, Jiang B, Chen YJ, Chen WJ, Wang N, Gan SR.

Eur Neurol. 2018 May 15;79(5-6):266-271. doi: 10.1159/000489398. [Epub ahead of print]

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PUBMED

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, A

JAMA Neurol. 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121. [Epub ahead of print]

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PUBMED

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Du

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

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PUBMED

Teaching Video NeuroImages: Upward gaze palsy is a sign of spinocerebellar ataxia type 3.

Nascimento FA, Marques Garcia BC, Teive HAG.

Neurology. 2018 Jul 31;91(5):e494. doi: 10.1212/WNL.0000000000005913. No abstract available.

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PUBMED

Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.

Biswas A, Varman M, Yoganathan S, Subhash PK, Mani S.

Neurology. 2018 Apr 3;90(14):e1271-e1272. doi: 10.1212/WNL.0000000000005252. No abstract available.

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PUBMED

[Neurosyphilis with cerebellar ataxia, personality change and cognitive decline one year after onset of cerebral infarction].

Ikeda S, Yakushiji Y, Eriguchi M, Fujii Y, Ishitsuka K, Hara H.

Rinsho Shinkeigaku. 2018 Jul 31. doi: 10.5692/clinicalneurol.cn-001170. [Epub ahead of print] Japanese.

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PUBMED

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

Tatfi M, Hermine O, Suarez F.

Front Immunol. 2019 Jan 4;9:3060. doi: 10.3389/fimmu.2018.03060. eCollection 2018. Review.

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PUBMED

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 Apr 5;29:125-128. doi: 10.1016/j.scr.2018.03.018. [Epub ahead of print]

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PUBMED

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

Legris N, Chassin O, Nasser G, Riant F, Tournier-Lasserve E, Denier C.

J Stroke Cerebrovasc Dis. 2018 Nov 28. pii: S1052-3057(18)30601-3. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. [Epub ahead of print]

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PUBMED

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.

Brain. 2018 Apr 1;141(4):989-999. doi: 10.1093/brain/awy028.

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PUBMED

Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.

O'Keefe JA, Robertson EE, Ouyang B, Carns D, McAsey A, Liu Y, Swanson M, Bernard B, Berry-Kravis E, Hall DA.

Gait Posture. 2018 Sep 12;66:288-293. doi: 10.1016/j.gaitpost.2018.09.005. [Epub ahead of print]

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PUBMED

Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.

Karam A, Trottier Y.

Adv Exp Med Biol. 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9.

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