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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

6944 ARTíCULOS , VIENDO DEL 61 AL 75

PUBMED

Glutamic acid decarboxylase 65-positive autoimmune encephalitis presenting with gelastic seizure, responsive to steroid: A case report

Yang CY, Tsai ST.

World J Clin Cases. 2021 Jul 6;9(19):5325-5331. doi: 10.12998/wjcc.v9.i19.5325.

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Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo

Watchon M, Luu L, Robinson KJ, Yuan KC, De Luca A, Suddull HJ, Tym MC, Guillemin GJ, Cole NJ, Nicholson GA, Chung RS, Lee A, Laird AS.

Mol Brain. 2021 Aug 20;14(1):128. doi: 10.1186/s13041-021-00839-x.

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Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure

Kinkar JS, Jameel PZ, Kumawat BL, Kalbhor P.

BMJ Case Rep. 2021 Jun 30;14(6):e241767. doi: 10.1136/bcr-2021-241767.

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Chronic oxcarbazepine intoxication in a patient with primary antiphospholipid syndrome on maintenance haemodialysis

Dirim AB, Mirioglu S, Yesilot N, Oguz E, Yazici H, Inanc M, Artim-Esen B.

J Clin Pharm Ther. 2021 Jul 28. doi: 10.1111/jcpt.13504. Online ahead of print.

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Myocardial Perfusion Reserve in Children with Friedreich Ataxia

Hutchens JA, Johnson TR, Payne RM.

Pediatr Cardiol. 2021 Jul 10. doi: 10.1007/s00246-021-02675-1. Online ahead of print.

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Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type

Vidhale TA, Gupta HR, Pj R, Gandhi C.

BMJ Case Rep. 2021 Jul 23;14(7):e242073. doi: 10.1136/bcr-2021-242073.

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Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

Hübener-Schmid J, Kuhlbrodt K, Peladan J, Faber J, Santana MM, Hengel H, Jacobi H, Reetz K, Garcia-Moreno H, Raposo M, van Gaalen J, Infante J, Steiner KM, de Vries J, Verbeek MM, Giunti P, Pereira de

Mov Disord. 2021 Aug 16. doi: 10.1002/mds.28749. Online ahead of print.

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Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

Wang S, Miao J, Feng J.

Front Neurol. 2021 Jul 1;12:679302. doi: 10.3389/fneur.2021.679302. eCollection 2021.

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RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia

Gu C, Wang H, Shu J, Zheng J, Li D, Cai C, Zhang P.

Clin Chim Acta. 2021 Aug 25:S0009-8981(21)00304-1. doi: 10.1016/j.cca.2021.08.026. Online ahead of print.

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Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia

Khoury B, Shakir MK, Hoang TD.

BMJ Case Rep. 2021 Aug 25;14(8):e244788. doi: 10.1136/bcr-2021-244788.

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Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich's Ataxia

Santos J, Woloski JR, Wu N.

Cureus. 2021 Jun 29;13(6):e16032. doi: 10.7759/cureus.16032. eCollection 2021 Jun.

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The genetic association of the transcription factor NPAT with glycemic response to metformin involves regulation of fuel selection

Chen C, Gallagher JR, Tarlton J, van Aalten L, Bray SE, Ashford MLJ, McCrimmon RJ, Pearson ER, McNeilly AD, Sutherland C.

PLoS One. 2021 Jul 1;16(7):e0253533. doi: 10.1371/journal.pone.0253533. eCollection 2021.

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Homozygosity for a novel missense variant of RPGRIP1L causing Joubert syndrome with renal defects in a family of Chinese descent

Sun S, Chen L, Li N, Wang X.

Clin Nephrol. 2021 Jul 26. doi: 10.5414/CN110539. Online ahead of print.

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Autoantibody against the Rab6A/Rab6B in primary autoimmune cerebellar ataxia associated with Sjogren's syndrome: A case report

Guo L, Ren H, Fan S, Guan H, Wang J.

J Neuroimmunol. 2021 Jul 22;359:577667. doi: 10.1016/j.jneuroim.2021.577667. Online ahead of print.

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The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

Xiong S, Jia Y, Li S, Huang P, Xiong J, Mao D, He Q, Liu L.

Front Pediatr. 2021 Jul 20;9:692459. doi: 10.3389/fped.2021.692459. eCollection 2021.

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