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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

Integrative network and brain expression analysis reveals mechanistic modules in ataxia.

Eidhof I, van de Warrenburg BP, Schenck A.

J Med Genet. 2018 Dec 27. pii: jmedgenet-2018-105703. doi: 10.1136/jmedgenet-2018-105703. [Epub ahead of print]

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Palbociclib enhances radiosensitivity of hepatocellular carcinoma and cholangiocarcinoma via inhibiting ataxia telangiectasia-mutated kinase-mediated DNA damage response.

Huang CY, Hsieh FS, Wang CY, Chen LJ, Chang SS, Tsai MH, Hung MH, Kuo CW, Shih CT, Chao TI, Chen KF.

Eur J Cancer. 2018 Aug 10;102:10-22. doi: 10.1016/j.ejca.2018.07.010. [Epub ahead of print]

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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

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

Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.

Schon K, van Os N, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM,

Ann Neurol. 2018 Dec 14. doi: 10.1002/ana.25394. [Epub ahead of print]

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PUBMED

Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins.

Waliszewska-Prosół M, Obara K, Szewczyk P, Śniatowska M, Budrewicz S.

Postgrad Med J. 2018 Feb 6. pii: postgradmedj-2018-135566. doi: 10.1136/postgradmedj-2018-135566. [Epub ahead of print] No abstract available.

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PUBMED

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Tariq H, Imran R, Naz S.

J Clin Neurol. 2018 Oct;14(4):498-504. doi: 10.3988/jcn.2018.14.4.498. Epub 2018 Jul 12.

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PUBMED

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

Pelosi L, Mulroy E, Leadbetter R, Kilfoyle D, Chancellor AM, Mossman S, Wing L, Wu TY, Roxburgh RH.

Eur J Neurol. 2018 Jan 5. doi: 10.1111/ene.13563. [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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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

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

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2.

Sena LS, Castilhos RM, Mattos EP, Furtado GV, Pedroso JL, Barsottini O, de Amorim MMP, Godeiro C, Saraiva-Pereira ML, Jardim LB.

Cerebellum. 2018 Nov 19. doi: 10.1007/s12311-018-0991-9. [Epub ahead of print]

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PUBMED

Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?

Zaki-Dizaji M, Akrami SM, Azizi G, Abolhassani H, Aghamohammadi A.

Inflamm Res. 2018 Mar 26. doi: 10.1007/s00011-018-1142-y. [Epub ahead of print] Review.

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PUBMED

Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation.

Aghamohammadi A, Akrami SM, Yaghmaie M, Rezaei N, Azizi G, Yaseri M, Nosrati H, Zaki-Dizaji M.

Sultan Qaboos Univ Med J. 2018 Nov;18(4):e440-e446. doi: 10.18295/squmj.2018.18.04.003. Epub 2019 Mar 28.

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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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