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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

7060 ARTíCULOS , VIENDO DEL 6886 AL 6900

PUBMED

Identification of a novel missense mutation in Friedreich's ataxia -FXN(W) (168R).

Clark E, Strawser C, Schadt K, Lynch DR.

Ann Clin Transl Neurol. 2019 Feb 21;6(4):812-816. doi: 10.1002/acn3.728. eCollection 2019 Apr.

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PUBMED

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.

Piguet F, de Montigny C, Vaucamps N, Reutenauer L, Eisenmann A, Puccio H.

Mol Ther. 2018 May 28. pii: S1525-0016(18)30209-0. doi: 10.1016/j.ymthe.2018.05.006. [Epub ahead of print]

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PUBMED

Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish.

Namikawa K, Dorigo A, Köster RW.

J Exp Neurosci. 2019 Oct 17;13:1179069519880515. doi: 10.1177/1179069519880515. eCollection 2019.

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PUBMED

[What is ataxia? - Towards developing a new scale for ataxia].

Onodera O.

Rinsho Shinkeigaku. 2012;52(11):988-9. Japanese.

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PUBMED

GABA-A receptor impairment in cerebellar ataxia with anti-glutamic acid decarboxylase antibodies.

Hosoi Y, Suzuki-Sakao M, Terada T, Konishi T, Ouchi Y, Miyajima H, Kono S.

J Neurol. 2013 Dec;260(12):3086-92. doi: 10.1007/s00415-013-7092-y.

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PUBMED

Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner.

Kim JH, Lukowicz A, Qu W, Johnson A, Cvetanovic M.

Glia. 2018 Jul 25. doi: 10.1002/glia.23451. [Epub ahead of print]

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PUBMED

Inter-rater reliability and validity of two ataxia rating scales in children with brain tumours.

Hartley H, Pizer B, Lane S, Sneade C, Pratt R, Bishop A, Kumar R.

Childs Nerv Syst. 2015 May;31(5):693-7. doi: 10.1007/s00381-015-2650-5.

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PUBMED

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance.

Mavrogeni S, Giannakopoulou A, Katsalouli M, Pons RM, Papavasiliou A, Kolovou G, Noutsias M, Papadopoulos G, Karanasios E, Chrousos GP.

J Neuromuscul Dis. 2020;7(1):61-67. doi: 10.3233/JND-180373.

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PUBMED

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

Wiethoff S, Hersheson J, Bettencourt C, Wood NW, Houlden H.

J Neurol. 2016 Aug;263(8):1503-10. doi: 10.1007/s00415-016-8148-6.

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PUBMED

[Disability and occupational therapy in patients with Friedreich's ataxia].

Ciancarelli I, Cofini V, Carolei A.

G Ital Med Lav Ergon. 2011 Apr-Jun;33(2):201-4. Italian.

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PUBMED

An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation.

Kono S, Terada T, Ouchi Y, Miyajima H.

BBA Clin. 2014 Sep 28;2:56-61. doi: 10.1016/j.bbacli.2014.09.005.

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PUBMED

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

D'Hooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J, Bekri S.

Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003.

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PUBMED

The ataxia telangiectasia mutated kinase controls Igκ allelic exclusion by inhibiting secondary Vκ-to-Jκ rearrangements.

Steinel NC, Lee BS, Tubbs AT, Bednarski JJ, Schulte E, Yang-Iott KS, Schatz DG, Sleckman BP, Bassing CH.

J Exp Med. 2013 Feb 11;210(2):233-9. doi: 10.1084/jem.20121605.

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PUBMED

[Opsoclonus myoclonus ataxia syndrome in Israel].

Blumkin L, Lerman-Sagie T.

Harefuah. 2010 Jan;149(1):24-8, 63. Hebrew.

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PUBMED

Opsoclonus myoclonus ataxia syndrome.

Khadilkar S, Benny R.

Neurol India. 2018 Sep-Oct;66(5):1293-1294. doi: 10.4103/0028-3886.241373. No abstract available.

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