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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

488 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila.

Tripathi BK, Surabhi S, Bhaskar PK, Mukherjee A, Mutsuddi M.

Biochim Biophys Acta. 2016 Sep;1862(9):1732-41. doi: 10.1016/j.bbadis.2016.06.008.

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PUBMED

Fusion of Human Fetal Mesenchymal Stem Cells with Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice."

Huda F, Fan Y, Suzuki M, Konno A, Matsuzaki Y, Takahashi N, Chan JK, Hirai H.

PLoS One. 2016 Nov 1;11(11):e0164202. doi: 10.1371/journal.pone.0164202.

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PUBMED

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Gama MT, Houle G, Noreau A, Dionne-Laporte A, Dion PA, Rouleau GA, Barsottini OG, Pedroso JL.

Mov Disord. 2016 Nov;31(11):1754-1756. doi: 10.1002/mds.26810. No abstract available.

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Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, Mauro A.

J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029.

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PUBMED

Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia.

Kruger PC, Yang KX, Parsons PJ, Becker AB, Feustel PJ, Koeppen AH.

Am J Cardiol. 2016 Jul 1;118(1):127-31. doi: 10.1016/j.amjcard.2016.04.024.

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PUBMED

Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development.

Botta-Orfila T, Tartaglia GG, Michalon A.

Cerebellum. 2016 Oct;15(5):599-610. doi: 10.1007/s12311-016-0800-2. Review.

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Motor cortical dysfunction develops in spinocerebellar ataxia type 3.

Farrar MA, Vucic S, Nicholson G, Kiernan MC.

Clin Neurophysiol. 2016 Nov;127(11):3418-3424. doi: 10.1016/j.clinph.2016.09.005.

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PUBMED

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

Benson MD, Ferreira P, MacDonald IM.

Ophthalmic Genet. 2016 Apr 7:1-3. [Epub ahead of print]

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PUBMED

Phonoarticulation in spinocerebellar ataxia type 3.

Wolf AE, Mourão L, Jr França MC, Machado Júnior AJ, Crespo AN.

Eur Arch Otorhinolaryngol. 2016 Aug 4. [Epub ahead of print]

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PUBMED

Fatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Martinez AR, Nunes MB, Faber I, D'Abreu A, Lopes-Cendes Í, França MC Jr.

Cerebellum. 2016 Mar 28. [Epub ahead of print]

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PUBMED

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.

Arias M.

Neurologia. 2016 Jul 23. pii: S0213-4853(16)30108-6. doi: 10.1016/j.nrl.2016.06.006. [Epub ahead of print] English, Spanish.

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Clinical Reasoning: Left hemiparesis, ataxia, and optic neuritis in a child previously treated for pineoblastoma.

Vila-Bedmar S, Nourbakhsh B, Anzalone S, Waubant E.

Neurology. 2016 Apr 12;86(15):e161-5. doi: 10.1212/WNL.0000000000002562. No abstract available.

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PUBMED

A cause for childhood ataxia.

Steffan JS.

Elife. 2016 Mar 1;5. pii: e14523. doi: 10.7554/eLife.14523.

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PUBMED

Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

Melo AR, Ramos A, Kazachkova N, Raposo M, Bettencourt BF, Rendeiro AR, Kay T, Vasconcelos J, Bruges-Armas J, Lima M.

Mol Diagn Ther. 2016 Dec;20(6):617-622.

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PUBMED

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome.

Krans A, Kearse MG, Todd PK.

Ann Neurol. 2016 Dec;80(6):871-881. doi: 10.1002/ana.24800.

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