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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

371 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

[Cerebellar Ataxia and Autoantibodies].

Nanri K, Yoshikura N, Kimura A, Nakayama S, Otomo T, Shimohata T, Terashi H, Sato T, Yamada J.

Brain Nerve. 2018 Apr;70(4):371-382. doi: 10.11477/mf.1416201010. Japanese.

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Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors.

Stezin A, Venkatesh SD, Thennarasu K, Purushottam M, Jain S, Yadav R, Pal PK.

J Neurol Sci. 2018 Sep 1;394:14-18. doi: 10.1016/j.jns.2018.08.024. [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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[A case of chronic progressive neuro-Behcet's disease with cerebellar ataxia and bulbar palsy preceding mucocutaneo-ocular symptoms].

Watanabe M, Kobayashi R, Hasegawa T, Yokoi S, Okada H, Okuda S.

Rinsho Shinkeigaku. 2018 Jan 31. doi: 10.5692/clinicalneurol.cn-001088. [Epub ahead of print] Japanese.

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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Rian

Genet Med. 2018 Jul 12. doi: 10.1038/s41436-018-0089-2. [Epub ahead of print]

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PUBMED

Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.

Pastor PDH, Du X, Fazal S, Davies AN, Gomez CM.

Cerebellum. 2018 Feb;17(1):72-77. doi: 10.1007/s12311-018-0917-6.

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PUBMED

Intraepidermal Nerve Fiber Density in Friedreich's Ataxia.

Indelicato E, Nachbauer W, Eigentler A, Rudzki D, Wanschitz J, Boesch S.

J Neuropathol Exp Neurol. 2018 Oct 9. doi: 10.1093/jnen/nly100. [Epub ahead of print]

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PUBMED

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.

Monte TL, Reckziegel EDR, Augustin MC, Locks-Coelho LD, Santos ASP, Furtado GV, de Mattos EP, Pedroso JL, Barsottini OP, Vargas FR, Saraiva-Pereira ML, Camey SA, Leotti VB, Jardim LB; Rede Neurogenéti

Orphanet J Rare Dis. 2018 Jan 25;13(1):20. doi: 10.1186/s13023-017-0725-y.

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PUBMED

Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future.

Hall DA, Hagerman RJ.

Front Genet. 2018 Jun 7;9:100. doi: 10.3389/fgene.2018.00100. eCollection 2018. No abstract available.

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Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, Nakajima K, Mizuno T, Imai K, Sugawara Y, Morio T, Kumada S, Takagi M.

Brain Dev. 2018 Oct 6. pii: S0387-7604(18)30244-4. doi: 10.1016/j.braindev.2018.09.007. [Epub ahead of print]

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PUBMED

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.

Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-D

Brain. 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137.

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PUBMED

Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis.

de Mattos EP, Kolbe Musskopf M, Leotti Torman V, Saraiva-Pereira ML, Jardim LB.

J Neurol Neurosurg Psychiatry. 2018 Oct 18. pii: jnnp-2018-319200. doi: 10.1136/jnnp-2018-319200. [Epub ahead of print]

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A randomized controlled pilot trial of game-based training in individuals with spinocerebellar ataxia type 3.

Wang RY, Huang FY, Soong BW, Huang SF, Yang YR.

Sci Rep. 2018 May 18;8(1):7816. doi: 10.1038/s41598-018-26109-w.

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CRISPR/Cas9 targeted deletion of polyglutamine in spinocerebellar ataxia type 3 derived induced pluripotent stem cells.

Ouyang S, Xie Y, Xiong Z, Yang Y, Xian Y, Ou Z, Song B, Chen Y, Xie Y, Li H, Sun X.

Stem Cells Dev. 2018 Apr 17. doi: 10.1089/scd.2017.0209. [Epub ahead of print]

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PUBMED

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S.

Genet Med. 2018 Jun 18. doi: 10.1038/s41436-018-0007-7. [Epub ahead of print]

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