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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

435 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Microbiological surveillance in lung disease in ataxia telangiectasia.

Bhatt JM, Bush A.

Eur Respir J. 2014 Jun;43(6):1797-801. doi: 10.1183/09031936.00141413. No abstract available.

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A 23-year-old man with acute onset paresthesias and gait ataxia.

Shwe Y, Scelsa SN.

J Clin Neuromuscul Dis. 2014 Jun;15(4):192-3. doi: 10.1097/CND.0000000000000035. No abstract available.

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PUBMED

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N.

J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Review.

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Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H.

Clin Genet. 2014 Mar;85(3):296-7. doi: 10.1111/cge.12140. No abstract available.

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PUBMED

Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.

Velázquez-Pérez L, Rodríguez-Labrada R, Cruz-Rivas EM, Fernández-Ruiz J, Vaca-Palomares I, Lilia-Campins J, Cisneros B, Peña-Acosta A, Vázquez-Mojena Y, Diaz R, Magaña-Aguirre JJ, Cruz-Mariño T, Estup

Cerebellum. 2014 Oct;13(5):568-79. doi: 10.1007/s12311-014-0574-3.

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PUBMED

An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.

Gérard C, Xiao X, Filali M, Coulombe Z, Arsenault M, Couet J, Li J, Drolet MC, Chapdelaine P, Chikh A, Tremblay JP.

Mol Ther Methods Clin Dev. 2014 Oct 8;1:14044. doi: 10.1038/mtm.2014.44.

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Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

Anjomani Virmouni S, Sandi C, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Sep 8;9(9):e107416. doi: 10.1371/journal.pone.0107416.

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Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

Arpa J, Sanz-Gallego I, Rodríguez-de-Rivera FJ, Domínguez-Melcón FJ, Prefasi D, Oliva-Navarro J, Moreno-Yangüela M.

Acta Neurol Scand. 2014 Jan;129(1):32-40. doi: 10.1111/ane.12141.

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PUBMED

Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich's ataxia patient iPSC-derived neural stem cells.

Shan B, Xu C, Zhang Y, Xu T, Gottesfeld JM, Yates JR 3rd.

J Proteome Res. 2014 Nov 7;13(11):4558-66. doi: 10.1021/pr500514r.

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PUBMED

Friedreich's Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis.

Carletti B, Piemonte F.

Antioxidants (Basel). 2014 Sep 10;3(3):592-603. doi: 10.3390/antiox3030592. Review.

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PUBMED

Midbrain infarction causing oculomotor nerve palsy and ipsilateral cerebellar ataxia.

Tokunaga M, Fukunaga K, Nakanishi R, Watanabe S, Yamanaga H.

Intern Med. 2014;53(18):2143-7.

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Cerebral abnormalities in adults with ataxia-telangiectasia.

Lin DD, Barker PB, Lederman HM, Crawford TO.

AJNR Am J Neuroradiol. 2014 Jan;35(1):119-23. doi: 10.3174/ajnr.A3646.

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PUBMED

Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy.

Keiser MS, Boudreau RL, Davidson BL.

Mol Ther. 2014 Mar;22(3):588-95. doi: 10.1038/mt.2013.279.

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PUBMED

Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7.

Sidiropoulos C, Masani K, Mestre T, Milosevic M, Poon YY, Fallis M, Shah BB, Kalia SK, Popovic MR, Lozano AM, Moro E.

J Neurol. 2014 Mar;261(3):570-4. doi: 10.1007/s00415-013-7236-0.

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Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.

Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW.

Neurology. 2014 Oct 21;83(17):1554-61. doi: 10.1212/WNL.0000000000000909.

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