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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 1 AL 15

PUBMED

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.

Lin H, Magrane J, Clark EM, Halawani SM, Warren N, Rattelle A, Lynch DR.

Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.

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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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Commentary on the Paper Progression of Gait Ataxia in Patients with Degenerative Cerebellar Disorders: a 4-Year Follow-Up Study"."

Serrao M.

Cerebellum. 2017 Jan 5. doi: 10.1007/s12311-016-0841-6. [Epub ahead of print] No abstract available.

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PUBMED

Ataxia in children: early recognition and clinical evaluation.

Pavone P, Praticò AD, Pavone V, Lubrano R, Falsaperla R, Rizzo R, Ruggieri M.

Ital J Pediatr. 2017 Jan 13;43(1):6. doi: 10.1186/s13052-016-0325-9. Review.

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PUBMED

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.

Gass JM, Cheema A, Jackson J, Blackburn PR, Van Gerpen J, Atwal PS.

Neurologist. 2017 Nov;22(6):247-248. doi: 10.1097/NRL.0000000000000153.

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PUBMED

Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction.

Jia L, Zhang W, Ma Y, Chen B, Liu Y, Piao C, Wang Y, Yang M, Liu T, Zhang J, Li T, Nie S, Du J.

J Am Heart Assoc. 2017 Jul 19;6(7). pii: e006349. doi: 10.1161/JAHA.117.006349.

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PUBMED

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

Imbrici P, Altamura C, Gualandi F, Mangiatordi GF, Neri M, De Maria G, Ferlini A, Padovani A, D'Adamo MC, Nicolotti O, Pessia M, Conte D, Filosto M, Desaphy JF.

Mol Cell Neurosci. 2017 Jun 27. pii: S1044-7431(16)30275-5. doi: 10.1016/j.mcn.2017.06.006. [Epub ahead of print]

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PUBMED

Validity and reliability of the International Cooperative Ataxia Rating Scale (ICARS) and the Scale for the Assessment and Rating of Ataxia (SARA) in multiple sclerosis patients with ataxia.

Salcı Y, Fil A, Keklicek H, Çetin B, Armutlu K, Dolgun A, Tuncer A, Karabudak R.

Mult Scler Relat Disord. 2017 Nov;18:135-140. doi: 10.1016/j.msard.2017.09.032. Epub 2017 Sep 29.

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PUBMED

A recessive ataxia diagnosis algorithm for the next-generation sequencing era.

Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL working group..

Ann Neurol. 2017 Oct 23. doi: 10.1002/ana.25084. [Epub ahead of print]

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PUBMED

Resting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6).

Pereira L, Airan RD, Fishman A, Pillai JJ, Kansal K, Onyike CU, Prince JL, Ying SH, Sair HI.

Hum Brain Mapp. 2017 Mar 15. doi: 10.1002/hbm.23568. [Epub ahead of print]

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.

Neurol Neurochir Pol. 2017 Aug 17. pii: S0028-3843(17)30244-X. doi: 10.1016/j.pjnns.2017.08.003. [Epub ahead of print]

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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn A, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Pan

Ann Neurol. 2017 Apr 5. doi: 10.1002/ana.24929. [Epub ahead of print]

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PUBMED

SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

Yucesan E, Ugur Iseri SA, Bilgic B, Gormez Z, Bakir Gungor B, Sarac A, Ozdemir O, Sagiroglu M, Gurvit H, Hanagasi H, Ozbek U.

Neurol Sci. 2017 Jul 7. doi: 10.1007/s10072-017-3049-8. [Epub ahead of print]

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PUBMED

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F.

Am J Kidney Dis. 2017 Dec 7. pii: S0272-6386(17)31014-4. doi: 10.1053/j.ajkd.2017.09.020. [Epub ahead of print]

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PUBMED

Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease.

Teive HA.

Arq Neuropsiquiatr. 2017 Mar;75(3):137-138. doi: 10.1590/0004-282X20170020. No abstract available.

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