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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 76 AL 90

PUBMED

Segmentation of the Cerebellar Peduncles Using a Random Forest Classifier and a Multi-object Geometric Deformable Model: Application to Spinocerebellar Ataxia Type 6.

Ye C, Yang Z, Ying SH, Prince JL.

Neuroinformatics. 2015 Jul;13(3):367-81. doi: 10.1007/s12021-015-9264-7.

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PUBMED

A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.

Qu J, Wu CK, Zuzuárregui JR, Hohler AD.

J Neurol Sci. 2015 Nov 15;358(1-2):530-1. doi: 10.1016/j.jns.2015.10.003. No abstract available.

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PUBMED

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Du

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509.

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PUBMED

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

Szmulewicz DJ, Seiderer L, Halmagyi GM, Storey E, Roberts L.

Muscle Nerve. 2015 Apr;51(4):600-3. doi: 10.1002/mus.24422.

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PUBMED

[Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].

Perez-Etchepare E, Rodríguez Chitiva HA, García Nieto V, Luis Yanes MI, Antón Hernández L.

An Pediatr (Barc). 2015 May;82(5):e245-6. doi: 10.1016/j.anpedi.2014.05.008. Spanish. No abstract available.

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PUBMED

Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.

Agathanggelou A, Weston VJ, Perry T, Davies NJ, Skowronska A, Payne DT, Fossey JS, Oldreive CE, Wei W, Pratt G, Parry H, Oscier D, Coles SJ, Hole PS, Darley RL, McMahon M, Hayes JD, Moss P, Stewart GS

Haematologica. 2015 Aug;100(8):1076-85. doi: 10.3324/haematol.2014.115170.

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PUBMED

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E.

Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95.

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PUBMED

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y.

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PUBMED

Mitoferrin modulates iron toxicity in a Drosophila model of Friedreich's ataxia.

Navarro JA, Botella JA, Metzendorf C, Lind MI, Schneuwly S.

Free Radic Biol Med. 2015 Aug;85:71-82. doi: 10.1016/j.freeradbiomed.2015.03.014.

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PUBMED

The mechanism of ipsilateral ataxia in lacunar hemiparesis: SPECT perfusion imaging.

Yamamoto R, Johkura K, Nakae Y, Tanaka F.

Eur Neurol. 2015;73(1-2):106-11. doi: 10.1159/000369009.

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PUBMED

Excessive brain iron accumulation in spinocerebellar ataxia type 17.

Claassen J, Gerding WM, Kastrup O, Uslar E, Goericke S, Timmann D.

Neurology. 2015 Jan 13;84(2):212-3. doi: 10.1212/WNL.0000000000001141. No abstract available.

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PUBMED

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.

Rufini A, Cavallo F, Condò I, Fortuni S, De Martino G, Incani O, Di Venere A, Benini M, Massaro DS, Arcuri G, Serio D, Malisan F, Testi R.

Neurobiol Dis. 2015 Mar;75:91-9. doi: 10.1016/j.nbd.2014.12.011.

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PUBMED

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7. No abstract available.

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PUBMED

An anti-GAD autoantibody-associated cerebellar syndrome case: a curable cause of ataxia.

Dogan VB.

Neurol Sci. 2015 Oct;36(10):1929-31. doi: 10.1007/s10072-015-2280-4. No abstract available.

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PUBMED

Change in the cortical complexity of spinocerebellar ataxia type 3 appears earlier than clinical symptoms.

Wang TY, Jao CW, Soong BW, Wu HM, Shyu KK, Wang PS, Wu YT.

PLoS One. 2015 Apr 21;10(4):e0118828. doi: 10.1371/journal.pone.0118828.

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