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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 61 AL 75

PUBMED

Responses to and Outcomes of Treatment of Autoimmune Cerebellar Ataxia in Adults.

Jones AL, Flanagan EP, Pittock SJ, Mandrekar JN, Eggers SD, Ahlskog JE, McKeon A.

JAMA Neurol. 2015 Nov;72(11):1304-12. doi: 10.1001/jamaneurol.2015.2378.

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A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.

Velázquez-Pérez L, Cerecedo-Zapata CM, Hernández-Hernández O, Martínez-Cruz E, Tapia-Guerrero YS, González-Piña R, Salas-Vargas J, Rodríguez-Labrada R, Gurrola-Betancourth R, Leyva-García N, Cisneros

Neurogenetics. 2015 Jan;16(1):11-21. doi: 10.1007/s10048-014-0424-y.

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Early and severe autonomic failure: broadening the clinical phenotype of type-2 spinocerebellar ataxia. A case report.

Capozzo R, Rizzo G, De Mari M, Tortorella C, Logroscino G.

J Neurol. 2015 Jan;262(1):224-5. doi: 10.1007/s00415-014-7577-3. No abstract available.

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A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL.

Hum Mutat. 2015 Aug;36(8):753-7. doi: 10.1002/humu.22797.

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PUBMED

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.

Villaseñor R, Miraglia L, Romero A, Tu B, Punga T, Knuckles P, Duss S, Orth T, Bühler M.

J Biomol Screen. 2015 Jul;20(6):760-7. doi: 10.1177/1087057114568071.

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PUBMED

Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia.

Meschini R, Morucci E, Berni A, Lopez-Martinez W, Palitti F.

Mutat Res. 2015 Jul;777:52-9. doi: 10.1016/j.mrfmmm.2015.04.009.

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PUBMED

The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.

Chatterjee A, Saha S, Chakraborty A, Silva-Fernandes A, Mandal SM, Neves-Carvalho A, Liu Y, Pandita RK, Hegde ML, Hegde PM, Boldogh I, Ashizawa T, Koeppen AH, Pandita TK, Maciel P, Sarkar PS, Hazra TK

PLoS Genet. 2015 Jan 29;11(1):e1004749. doi: 10.1371/journal.pgen.1004749.

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A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.

Calì T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, Zanotti G, Brini M, Shinawi M, Carafoli E.

J Biol Chem. 2015 Jun 26;290(26):16132-41. doi: 10.1074/jbc.M115.656496.

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ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L, Taylor M, Tonia T, Warris A, Zielen S, Zinna S, Merkus PJ; European Respiratory Society..

Eur Respir Rev. 2015 Dec;24(138):565-81. doi: 10.1183/16000617.0066-2015. Review.

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PUBMED

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?

Fogel BL, Hanson SM, Becker EB.

Mov Disord. 2015 Feb;30(2):284-6. doi: 10.1002/mds.26096. No abstract available.

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PUBMED

Bilateral lower-extremity numbness and ataxia in a young female runner.

Casagranda B, Srivastava U, Heller MT.

Radiol Case Rep. 2015 Nov 6;9(3):989. doi: 10.2484/rcr.v9i3.989.

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Fragile X Tremor Ataxia Syndrome With Rapidly Progressive Myopathy.

Nirenberg MJ, Bhatt JM, Roda RH.

JAMA Neurol. 2015 Aug;72(8):946-8. doi: 10.1001/jamaneurol.2015.0812. No abstract available.

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PUBMED

SPG7 mutations are a common cause of undiagnosed ataxia.

Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF.

Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. No abstract available. Erratum in: Neurology. 2015 May 5;84(18):1911.

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PUBMED

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

Lam CW, Law CY, Siu WK, Fung CW, Yau MM, Huen KF, Lee HH, Mak CM.

Clin Chim Acta. 2015 Aug 25;448:211-4. doi: 10.1016/j.cca.2015.06.028.

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PUBMED

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

Aygün FD, Nepesov S, Çokuğraş H, Camcıoğlu Y.

Case Rep Pediatr. 2015;2015:615368. doi: 10.1155/2015/615368.

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