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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

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C.

J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3.

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PUBMED

DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.

Gilmore EC.

Neurogenetics. 2014 Oct;15(4):217-28. doi: 10.1007/s10048-014-0415-z. Review.

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PUBMED

Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia.

Caballero T, Caba-Molina M, Salmerón J, Gómez-Morales M.

Case Reports Hepatol. 2014;2014:761250. doi: 10.1155/2014/761250.

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PUBMED

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.

Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappatà S, Padovani A, Ferrarini M, Filla A.

J Alzheimers Dis. 2014;41(3):709-14. doi: 10.3233/JAD-140081.

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PUBMED

Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration.

Ueda N, Hakii Y, Koyano S, Higashiyama Y, Joki H, Baba Y, Suzuki Y, Kuroiwa Y, Tanaka F.

J Neurol. 2014 Jul;261(7):1381-6. doi: 10.1007/s00415-014-7353-4.

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PUBMED

Pathological crying associated with fragile X-associated tremor/ataxia syndrome.

Van Ballaer K, Vandenbulcke M.

J Neuropsychiatry Clin Neurosci. 2014 Fall;26(4):E21-2. doi: 10.1176/appi.neuropsych.13100229. No abstract available.

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PUBMED

A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia.

Miyoshi Y, Yoshioka Y, Suzuki K, Miyazaki T, Koura M, Saigoh K, Kajimura N, Monobe Y, Kusunoki S, Matsuda J, Watanabe M, Hayasaka N.

PLoS One. 2014 Sep 24;9(9):e107867. doi: 10.1371/journal.pone.0107867.

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PUBMED

Cerebellar theta burst stimulation in stroke patients with ataxia.

Bonnì S, Ponzo V, Caltagirone C, Koch G.

Funct Neurol. 2014 Jan-Mar;29(1):41-5.

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PUBMED

A rare case of ataxia telangiectasia in a 9-year-old female child.

Nagasravani J, Chacham S, Narayan Reddy U, Narsing Rao J, Rao SP, Mahmood A.

Pediatr Neurol. 2014 Oct;51(4):583-4. doi: 10.1016/j.pediatrneurol.2014.06.022. No abstract available.

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PUBMED

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.

Kumaran D, Balagopal K, Tharmaraj RG, Aaron S, George K, Muliyil J, Sivadasan A, Danda S, Alexander M, Hasan G.

BMC Med Genet. 2014 Oct 25;15:114. doi: 10.1186/s12881-014-0114-5.

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PUBMED

Spontaneous thrombosis of developmental venous anomaly (DVA) with venous infarct and acute cerebellar ataxia.

Agarwal A, Kanekar S, Kalapos P, Vijay K.

Emerg Radiol. 2014 Aug;21(4):427-30. doi: 10.1007/s10140-014-1216-2.

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PUBMED

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators..

Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012.

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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

Consensus clinical management guidelines for Friedreich ataxia.

Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group..

Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7. Review.

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PUBMED

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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