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Bibliografía Científica

Artículo Destacado en trastornos del movimiento

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

435 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Jun 27;9(6):e100523. doi: 10.1371/journal.pone.0100523.

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PUBMED

Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.

Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, Zielen S.

Growth Factors. 2014 Jun;32(3-4):123-9. doi: 10.3109/08977194.2014.939805.

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PUBMED

A visuomotor disorder in the absence of movement: does optic ataxia generalize to learned isometric hand action?

Ferrari-Toniolo S, Papazachariadis O, Visco-Comandini F, Salvati M, D'Elia A, Di Berardino F, Caminiti R, Battaglia-Mayer A.

Neuropsychologia. 2014 Oct;63:59-71. doi: 10.1016/j.neuropsychologia.2014.07.029.

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PUBMED

Purkinje cell compartmentation in the cerebellum of the lysosomal Acid phosphatase 2 mutant mouse (nax - naked-ataxia mutant mouse).

Bailey K, Rahimi Balaei M, Mannan A, Del Bigio MR, Marzban H.

PLoS One. 2014 Apr 10;9(4):e94327. doi: 10.1371/journal.pone.0094327.

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PUBMED

Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population.

Vilvanathan S, Gurusamy U, Mukta V, Das AK, Chandrasekaran A.

Indian J Endocrinol Metab. 2014 Nov;18(6):850-4. doi: 10.4103/2230-8210.119944.

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PUBMED

One-year follow-up of transgene expression by integrase-defective lentiviral vectors and their therapeutic potential in spinocerebellar ataxia model mice.

Saida H, Matsuzaki Y, Takayama K, Iizuka A, Konno A, Yanagi S, Hirai H.

Gene Ther. 2014 Sep;21(9):820-7. doi: 10.1038/gt.2014.60.

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PUBMED

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.

Iwasa K, Shima K, Komai K, Nishida Y, Yokota T, Yamada M.

J Neurol Sci. 2014 Oct 15;345(1-2):228-30. doi: 10.1016/j.jns.2014.07.001.

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PUBMED

Ataxia telangiectasia in a three-year-old-girl.

Hosking KA, Leung H, Andrews I, Sachdev R.

Pediatr Neurol. 2014 Mar;50(3):279-80. doi: 10.1016/j.pediatrneurol.2013.11.011. No abstract available.

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PUBMED

The first knockin mouse model of episodic ataxia type 2.

Rose SJ, Kriener LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AM, Hess EJ.

Exp Neurol. 2014 Nov;261:553-62. doi: 10.1016/j.expneurol.2014.08.001.

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PUBMED

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.

Shen XM, Selcen D, Brengman J, Engel AG.

Neurology. 2014 Dec 9;83(24):2247-55. doi: 10.1212/WNL.0000000000001079.

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PUBMED

The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia.

Huang J, Lin A, Dong H, Wang C.

Neural Regen Res. 2014 May 15;9(10):1068-74. doi: 10.4103/1673-5374.133173.

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PUBMED

[Type 7 spinocerebellar ataxia (SCA) dignosed by the appearance of the fundus].

Jaja Z, Laghmari A.

Pan Afr Med J. 2014 Feb 14;17:110. doi: 10.11604/pamj.2014.17.110.3961. French. No abstract available.

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PUBMED

Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment.

Privette ED, Ram G, Treat JR, Yan AC, Heimall JR.

Pediatr Dermatol. 2014 Nov-Dec;31(6):703-7. doi: 10.1111/pde.12411.

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PUBMED

[How does the physician interpret the patient's narrative as it relates to the physical exam?; Limb ataxia and a slight fever].

Kihara M, Wada N.

Nihon Naika Gakkai Zasshi. 2014 Jun 10;103(6):1423-8. Japanese. No abstract available.

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PUBMED

Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction.

St John Sutton M, Ky B, Regner SR, Schadt K, Plappert T, He J, D'Souza B, Lynch DR.

Echocardiography. 2014;31(1):50-7. doi: 10.1111/echo.12287.

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