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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

5566 ARTíCULOS , VIENDO DEL 5431 AL 5445

PUBMED

Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.

Dittmer KE, Jolly RD, Mayhew IG, Ridler AL, Chernyavtseva A, Garrick DJ, Blair HT.

PLoS One. 2017 Dec 18;12(12):e0190030. doi: 10.1371/journal.pone.0190030. eCollection 2017.

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PUBMED

Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia.

Carlessi L, Fusar Poli E, Delia D.

Exp Biol Med (Maywood). 2013 Mar;238(3):301-7. doi: 10.1177/1535370213480703. Review.

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PUBMED

The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations.

García AM, Abrevaya S, Kozono G, Cordero IG, Córdoba M, Kauffman MA, Pautassi R, Muñoz E, Sedeño L, Ibáñez A.

J Med Genet. 2016 Nov 3. pii: jmedgenet-2016-104148. doi: 10.1136/jmedgenet-2016-104148. [Epub ahead of print] No abstract available.

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PUBMED

[Adult-onset opsoclonus-myoclonus-ataxia syndrome revealing rubella meningoencephalitis].

Nasri A, Mansour M, Messelmani M, Riahi A, Derbali H, Bedoui I, Zaouali J, Mrissa R.

Rev Med Interne. 2016 Dec;37(12):840-843. doi: 10.1016/j.revmed.2016.02.012. French.

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PUBMED

Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502).

Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR.

Dis Model Mech. 2018 Jan 29;11(1). pii: dmm033415. doi: 10.1242/dmm.033415. No abstract available.

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PUBMED

Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12.

Swarup V, Srivastava AK, Rajeswari MR.

Neurosci Res. 2012 Jun;73(2):161-7. doi: 10.1016/j.neures.2012.03.002.

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PUBMED

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenh

Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171.

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PUBMED

Spinocerebellar ataxia type 10.

Ashizawa T.

Handb Clin Neurol. 2012;103:507-19. doi: 10.1016/B978-0-444-51892-7.00032-2. Review. No abstract available.

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PUBMED

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N.

Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012.

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PUBMED

TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.

Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR.

Biochem J. 2011 Jul 1;437(1):157-67. doi: 10.1042/BJ20110276.

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PUBMED

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A.

Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337.

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PUBMED

[Autoimmune cerebellar ataxia].

Nanri K, Okuma M, Sato S, Taguchi T, Tanaka N.

Nihon Rinsho. 2015 Sep;73 Suppl 7:632-7. Japanese. No abstract available.

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PUBMED

Targeting the Ataxia Telangiectasia Mutated Protein in Cancer Therapy.

Vecchio D, Frosina G.

Curr Drug Targets. 2016;17(2):139-53. Review.

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PUBMED

A Case of Cerebellar Ataxia Associated with HIV Infection.

Anand KS, Wadhwa A, Garg J.

J Int Assoc Provid AIDS Care. 2014 Sep-Oct;13(5):409-10. doi: 10.1177/2325957414531620.

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PUBMED

Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report.

Tomioka H, Kaneoya A, Mochizuki Y, Harada H.

J Clin Diagn Res. 2015 Jun;9(6):ZD25-7. doi: 10.7860/JCDR/2015/12121.6107.

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