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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

5566 ARTíCULOS , VIENDO DEL 5416 AL 5430

PUBMED

Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells.

Wong AO, Wong G, Shen M, Chow MZ, Tse WW, Gurung B, Mak SY, Lieu DK, Costa KD, Chan CW, Martelli A, Nabhan JF, Li RA.

Stem Cell Res Ther. 2019 Jul 8;10(1):203. doi: 10.1186/s13287-019-1305-y.

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Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy.

Takahashi Y, Kanai M, Taminato T, Watanabe S, Matsumoto C, Araki T, Okamoto T, Ogawa M, Murata M.

Neurol Genet. 2016 Nov 21;3(1):e123.

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[A case of chronic active Epstein-Barr virus infection associated with recurrent cerebellar ataxia and skin eruptions].

Araki K, Okuno T, Honorat JA, Kinoshita M, Takahashi MP, Mizuki M, Kitagawa K, Mochizuki H.

Rinsho Shinkeigaku. 2013;53(2):119-24. Japanese.

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Growth and nutrition in children with ataxia telangiectasia.

Stewart E, Prayle AP, Tooke A, Pasalodos S, Suri M, Bush A, Bhatt JM.

Arch Dis Child. 2016 Dec;101(12):1137-1141. doi: 10.1136/archdischild-2015-310373.

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Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

Blumkin L, Michelson M, Leshinsky-Silver E, Kivity S, Lev D, Lerman-Sagie T.

J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316.

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Evaluation of the child with acute ataxia: a systematic review.

Whelan HT, Verma S, Guo Y, Thabet F, Bozarth X, Nwosu M, Katyayan A, Parachuri V, Spangler K, Ruggeri BE, Srivatsal S, Zhang G, Ashwal S.

Pediatr Neurol. 2013 Jul;49(1):15-24. doi: 10.1016/j.pediatrneurol.2012.12.005. Review.

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Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27.

Tempia F, Hoxha E, Negro G, Alshammari MA, Alshammari TK, Panova-Elektronova N, Laezza F.

Front Cell Neurosci. 2015 Jun 4;9:205. doi: 10.3389/fncel.2015.00205.

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Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Longobardi A, Romano S, Ristori G, Santorelli FM, Pierelli F, Casali C.

Neuroepidemiology. 2016;46(4):268. doi: 10.1159/000444642. No abstract available.

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Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y, Yang L, Wang J, Yang F, Xiao Y, Xia R, Yuan X, Yan M.

Neuromolecular Med. 2013 Sep;15(3):536-40. doi: 10.1007/s12017-013-8240-3. Erratum in: Neuromolecular Med. 2014 Mar;16(1):216.

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PUBMED

Redefining cerebellar ataxia in degenerative ataxias: lessons from recent research on cerebellar systems.

Tada M, Nishizawa M, Onodera O.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):922-8. doi: 10.1136/jnnp-2013-307225. Review.

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A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Mauri N, Kleiter M, Leschnik M, Högler S, Dietschi E, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V,

G3 (Bethesda). 2016 Dec 22. pii: g3.116.038455. doi: 10.1534/g3.116.038455. [Epub ahead of print]

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A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, Sorrentino P, Pane C, Tessa A, Brescia Morra V, Cocozza S, De Michele G, Santorelli FM, Filla A.

PLoS One. 2011 Mar 11;6(3):e17627. doi: 10.1371/journal.pone.0017627.

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PUBMED

NfL and pNfH are increased in Friedreich's ataxia

Hayer SN, Liepelt I, Barro C, Wilke C, Kuhle J, Martus P, Schöls L; EFACTS study group.

J Neurol. 2020 May;267(5):1420-1430. doi: 10.1007/s00415-020-09722-6. Epub 2020 Jan 30.

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Cognitive impairment in native Chinese with spinocerebellar ataxia type 3.

Feng L, Chen DB, Hou L, Huang LH, Lu SY, Liang XL, Li XH.

Eur Neurol. 2014;71(5-6):262-70. doi: 10.1159/000357404.

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Testing for optic ataxia in a blind field.

Khan AZ, Pisella L, Delporte L, Rode G, Rossetti Y.

Front Hum Neurosci. 2013 Jul 25;7:399. doi: 10.3389/fnhum.2013.00399.

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