Artículos por temáticas

Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability

Khristich AN, Armenia JF, Matera RM, Kolchinski AA, Mirkin SM.

Proc Natl Acad Sci U S A. 2020 Jan 21;117(3):1628-1637. doi: 10.1073/pnas.1913416117. Epub 2020 Jan 7.

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Tada Y, Kume K, Matsuda Y, Kurashige T, Kanaya Y, Ohsawa R, Morino H, Tabu H, Kaneko S, Suenaga T, Kakizuka A, Kawakami H.

J Hum Genet. 2020 Apr;65(4):363-369. doi: 10.1038/s10038-019-0717-y. Epub 2020 Jan 7.

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study

Selvadurai LP, Corben LA, Delatycki MB, Storey E, Egan GF, Georgiou-Karistianis N, Harding IH.

Hum Brain Mapp. 2020 May;41(7):1920-1933. doi: 10.1002/hbm.24921. Epub 2020 Jan 6.

Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

Wardman JH, Henriksen EE, Marthaler AG, Nielsen JE, Nielsen TT.

Cerebellum. 2020 Apr;19(2):165-181. doi: 10.1007/s12311-019-01092-8.

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA

Shishegar R, Harding IH, Corben LA, Delatycki MB, Storey E, Egan GF, Georgiou-Karistianis N.

Cerebellum. 2020 Apr;19(2):182-191. doi: 10.1007/s12311-019-01094-6.

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

Indelicato E, Fanciulli A, Nachbauer W, Eigentler A, Amprosi M, Ndayisaba JP, Granata R, Wenning G, Boesch S.

J Neurol. 2020 Apr;267(4):1097-1102. doi: 10.1007/s00415-019-09684-4. Epub 2019 Dec 31.

Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia

Zeigelboim BS, Scheidt AWV, Kronbauer KF, Liberalesso PBN, José MR, Fonseca VR, Teive HAG.

Int Arch Otorhinolaryngol. 2020 Jan;24(1):e86-e92. doi: 10.1055/s-0039-1693676. Epub 2019 Nov 4.

Acute cerebellar ataxia due to Epstein-Barr virus under administration of an immune checkpoint inhibitor.

Saikawa H, Nagashima H, Maeda T, Maemondo M.

BMJ Case Rep. 2019 Dec 30;12(12). pii: e231520. doi: 10.1136/bcr-2019-231520.

Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).

Prestori F, Moccia F, D'Angelo E.

Int J Mol Sci. 2019 Dec 27;21(1). pii: E216. doi: 10.3390/ijms21010216. Review.

Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.

Igoillo-Esteve M, Oliveira AF, Cosentino C, Fantuzzi F, Demarez C, Toivonen S, Hu A, Chintawar S, Lopes M, Pachera N, Cai Y, Abdulkarim B, Rai M, Marselli L, Marchetti P, Tariq M, Jonas JC, Boscolo M,

JCI Insight. 2020 Jan 30;5(2). pii: 134221. doi: 10.1172/jci.insight.134221.

Complexin I knockout rats exhibit a complex neurobehavioral phenotype including profound ataxia and marked deficits in lifespan.

Xu Y, Zhao XM, Liu J, Wang YY, Xiong LL, He XY, Wang TH.

Pflugers Arch. 2020 Jan;472(1):117-133. doi: 10.1007/s00424-019-02337-5. Epub 2019 Dec 24.

Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients

De Samber B, Vanden Berghe T, Meul E, Bauters S, Seyrich M, Smet J, De Paepe B, da Silva JC, Bohic S, Cloetens P, Van Coster R, Vandenabeele P, Vincze L.

J Synchrotron Radiat. 2020 Jan 1;27(Pt 1):185-198. doi: 10.1107/S1600577519015510. Epub 2020 Jan 1.

Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.

Naeije G, Wens V, Coquelet N, Sjøgård M, Goldman S, Pandolfo M, De Tiège XP.

Ann Clin Transl Neurol. 2020 Jan;7(1):94-104. doi: 10.1002/acn3.50966. Epub 2019 Dec 18.

Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia.

Ando S, Kanazawa M, Onodera O.

J Mov Disord. 2020 Jan;13(1):20-26. doi: 10.14802/jmd.19061. Epub 2019 Dec 19.

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance.

Mavrogeni S, Giannakopoulou A, Katsalouli M, Pons RM, Papavasiliou A, Kolovou G, Noutsias M, Papadopoulos G, Karanasios E, Chrousos GP.

J Neuromuscul Dis. 2020;7(1):61-67. doi: 10.3233/JND-180373.