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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 136 AL 150

PUBMED

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB.

Mov Disord. 2015 Feb;30(2):262-6. doi: 10.1002/mds.26059.

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PUBMED

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

Synofzik M, Kernstock C, Haack TB, Schöls L.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):580-1. doi: 10.1136/jnnp-2014-307793. No abstract available.

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PUBMED

A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Kwon KY, Huh K, Eun BL, Yoo HW, Kamsteeg EJ, Scheffer H, Koh SB.

Can J Neurol Sci. 2015 Jul;42(4):271-3. doi: 10.1017/cjn.2015.38. No abstract available.

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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

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.

Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS.

Brain. 2015 Sep;138(Pt 9):2537-52. doi: 10.1093/brain/awv195.

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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

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene.

Minnerop M, Bauer P.

JAMA Neurol. 2015 Feb;72(2):238-9. doi: 10.1001/jamaneurol.2014.3918. No abstract available.

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PUBMED

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.

Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M.

Eur J Paediatr Neurol. 2015 Jan;19(1):72-4. doi: 10.1016/j.ejpn.2014.10.005.

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PUBMED

SPG7 mutations are a common cause of undiagnosed ataxia.

[No authors listed]

Neurology. 2015 May 5;84(18):1911. doi: 10.1212/WNL.0000000000001628. No abstract available.

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PUBMED

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Du

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509.

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PUBMED

Fatigue is frequent and severe in spinocerebellar ataxia type 1.

Martins CR Jr, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr.

Parkinsonism Relat Disord. 2015 Jul;21(7):821-2. doi: 10.1016/j.parkreldis.2015.04.015. No abstract available.

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PUBMED

Monocular pendular nystagmus in a patient with sporadic cerebellar ataxia syndrome.

Woo SM, Kim HA, Lee H.

Neurol Sci. 2015 Jul;36(7):1259-61. doi: 10.1007/s10072-014-1967-2. No abstract available.

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PUBMED

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.

Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, Dent SY, Napierala M.

Mol Ther. 2015 Jun;23(6):1055-65. doi: 10.1038/mt.2015.41.

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PUBMED

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL.

Hum Mol Genet. 2015 Mar 1;24(5):1211-24. doi: 10.1093/hmg/ddu532.

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