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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

408 ARTíCULOS , VIENDO DEL 31 AL 45

PUBMED

Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Sánchez MG, Pérez JE, Pérez MR, Redondo AG.

J Neurol Sci. 2015 Nov 15;358(1-2):475-6. doi: 10.1016/j.jns.2015.08.032. No abstract available.

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Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

Gan SR, Ni W, Dong Y, Wang N, Wu ZY.

PLoS One. 2015 Aug 12;10(8):e0134405. doi: 10.1371/journal.pone.0134405.

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PUBMED

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB.

J Child Neurol. 2015 Nov;30(13):1749-56. doi: 10.1177/0883073815579708.

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PUBMED

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy.

Keiser MS, Kordower JH, Gonzalez-Alegre P, Davidson BL.

Brain. 2015 Dec;138(Pt 12):3555-66. doi: 10.1093/brain/awv292.

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PUBMED

Modifications of resting state networks in spinocerebellar ataxia type 2.

Cocozza S, Saccà F, Cervo A, Marsili A, Russo CV, Giorgio SM, De Michele G, Filla A, Brunetti A, Quarantelli M.

Mov Disord. 2015 Sep;30(10):1382-90. doi: 10.1002/mds.26284.

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PUBMED

Reversible Cerebellar Ataxia Related to Extrapontine Myelinolysis without Hyponatremia after Cisplatin-Based Chemotherapy for Cholangiocarcinoma.

Chung JH, Baik SK, Cho SH, Kim SG.

Cancer Res Treat. 2015 Apr;47(2):329-33. doi: 10.4143/crt.2013.145.

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[Report of a family with spinocerebellar ataxia and SCA1 gene mutation].

Chen J, Wang Y, Zeng G, Li G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):138-9. doi: 10.3760/cma.j.issn.1003-9406.2015.01.035. Chinese. No abstract available.

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PUBMED

Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration.

Jayabal S, Ljungberg L, Erwes T, Cormier A, Quilez S, El Jaouhari S, Watt AJ.

eNeuro. 2015 Dec 26;2(6). pii: ENEURO.0094-15.2015. doi: 10.1523/ENEURO.0094-15.2015.

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PUBMED

Ataxia.

Akbar U, Ashizawa T.

Neurol Clin. 2015 Feb;33(1):225-48. doi: 10.1016/j.ncl.2014.09.004. Review.

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PUBMED

Functional connectivity changes related to cognitive and motor performance in spinocerebellar ataxia type 2.

Hernandez-Castillo CR, Galvez V, Mercadillo RE, Díaz R, Yescas P, Martinez L, Ochoa A, Velazquez-Perez L, Fernandez-Ruiz J.

Mov Disord. 2015 Sep;30(10):1391-9. doi: 10.1002/mds.26320.

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PUBMED

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

Sen S, Keough K, Gibson J.

Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.

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PUBMED

Loss of the neuron-specific F-box protein FBXO41 models an ataxia-like phenotype in mice with neuronal migration defects and degeneration in the cerebellum.

Mukherjee C, Holubowska A, Schwedhelm-Domeyer N, Mitkovski M, Lee SJ, Kannan M, Matz A, Vadhvani M, Stegmüller J.

J Neurosci. 2015 Jun 10;35(23):8701-17. doi: 10.1523/JNEUROSCI.2133-14.2015.

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PUBMED

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B.

Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491.

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PUBMED

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.

Albuquerque MV, Pedroso JL, Braga Neto P, Barsottini OG.

Arq Neuropsiquiatr. 2015 Jan;73(1):18-21. doi: 10.1590/0004-282X20140192.

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PUBMED

Spontaneous downbeat nystagmus as a clue for the diagnosis of ataxia associated with anti-GAD antibodies.

Vale TC, Pedroso JL, Alquéres RA, Dutra LA, Barsottini OG.

J Neurol Sci. 2015 Dec 15;359(1-2):21-3. doi: 10.1016/j.jns.2015.10.024.

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