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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

366 ARTíCULOS , VIENDO DEL 16 AL 30

PUBMED

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.

Yusuf IH, Shanks ME, Clouston P, MacLaren RE.

Ophthalmic Genet. 2017 Dec 1:1-5. doi: 10.1080/13816810.2017.1408848. [Epub ahead of print]

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

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A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.

Mordel P, Schaeffer S, Dupas Q, Laville MA, Gérard M, Chapon F, Allouche S.

Biochem Biophys Res Commun. 2017 Oct 18. pii: S0006-291X(17)32044-2. doi: 10.1016/j.bbrc.2017.10.066. [Epub ahead of print]

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Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Boivin M, Willemsen R, Hukema RK, Sellier C.

Eur J Med Genet. 2017 Dec 6. pii: S1769-7212(17)30396-8. doi: 10.1016/j.ejmg.2017.11.001. [Epub ahead of print] Review.

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Spinocerebellar Ataxia Type 2 With Onset at Toddlerhood.

Kasinathan A, Saini AG, Sankhyan N, Singhi P.

J Clin Neuromuscul Dis. 2017 Jun;18(4):244-245. doi: 10.1097/CND.0000000000000161. No abstract available.

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Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.

Chen W, Caston R, Balakrishnan B, Siddiqi A, Parmar K, Tang M, Feng M, Lai K.

J Inherit Metab Dis. 2017 Jan;40(1):131-137. doi: 10.1007/s10545-016-9993-2.

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Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ, Cherqui S.

Sci Transl Med. 2017 Oct 25;9(413). pii: eaaj2347. doi: 10.1126/scitranslmed.aaj2347.

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HIV-associated opsoclonus-myoclonus-ataxia syndrome: early infection, immune reconstitution syndrome or secondary to other diseases? Case report and literature review.

Guedes BF, Vieira Filho MAA, Listik C, Carra RB, Pereira CB, Silva ERD, Gomes HR, Vidal JE.

J Neurovirol. 2017 Dec 14. doi: 10.1007/s13365-017-0603-3. [Epub ahead of print]

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Progression of Dysphagia in Spinocerebellar Ataxia Type 6.

Isono C, Hirano M, Sakamoto H, Ueno S, Kusunoki S, Nakamura Y.

Dysphagia. 2017 Jan 2. doi: 10.1007/s00455-016-9771-1. [Epub ahead of print]

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Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker.

Rodríguez-Labrada R, Vázquez-Mojena Y, Canales-Ochoa N, Medrano-Montero J, Velázquez-Pérez L.

Cerebellum Ataxias. 2017 Dec 19;4:19. doi: 10.1186/s40673-017-0078-2. eCollection 2017.

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Postural Ataxia in Cerebellar Downbeat Nystagmus: Its Relation to Visual, Proprioceptive and Vestibular Signals and Cerebellar Atrophy.

Helmchen C, Kirchhoff JB, Göttlich M, Sprenger A.

PLoS One. 2017 Jan 5;12(1):e0168808. doi: 10.1371/journal.pone.0168808.

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[A pedigree affected with spinocerebellar ataxia type III].

Geng Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):463-464. doi: 10.3760/cma.j.issn.1003-9406.2017.03.037. Chinese. No abstract available.

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PUBMED

Case 1: Fever and Ataxia in a Toddler with Pica.

Tucker MH, Holmes J, Harley S, Garcia MR, Custodio H.

Pediatr Rev. 2017 Sep;38(9):435-436. doi: 10.1542/pir.2016-0189. No abstract available.

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Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Wang L, Hao Y, Yu P, Cao Z, Zhang J, Zhang X, Chen Y, Zhang H, Gu W.

Cerebellum. 2017 Dec 1. doi: 10.1007/s12311-017-0896-z. [Epub ahead of print]

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Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.

Ishida Y, Kawakami H, Kitajima H, Nishiyama A, Sasai Y, Inoue H, Muguruma K.

Cell Rep. 2017 Jan 24;18(4):1075-1076. doi: 10.1016/j.celrep.2017.01.012. No abstract available.

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