Artículos por temáticas

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

Manini A, Bocci T, Migazzi A, Monfrini E, Ronchi D, Franco G, De Rosa A, Sartucci F, Priori A, Corti S, Comi GP, Bresolin N, Basso M, Di Fonzo A.

BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.

Cerebral dopamine neurotrophic factor (CDNF) protects against quinolinic acid-induced toxicity in in vitro and in vivo models of Huntington's disease

Stepanova P, Srinivasan V, Lindholm D, Voutilainen MH.

Sci Rep. 2020 Nov 5;10(1):19045. doi: 10.1038/s41598-020-75439-1.

Central Nervous System Therapeutic Targets in Friedreich Ataxia

Harding IH, Lynch DR, Koeppen AH, Pandolfo M.

Hum Gene Ther. 2020 Dec;31(23-24):1226-1236. doi: 10.1089/hum.2020.264.

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

Tinnevelt GH, Engelke UFH, Wevers RA, Veenhuis S, Willemsen MA, Coene KLM, Kulkarni P, Jansen JJ.

Metabolites. 2020 Nov 17;10(11):470. doi: 10.3390/metabo10110470.

Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man

Vale TC, Povoas Barsottini OG, Pedroso JL.

Parkinsonism Relat Disord. 2020 Nov 10:S1353-8020(20)30856-7. doi: 10.1016/j.parkreldis.2020.11.006. Online ahead of print.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G; Undiagnosed Diseases Network, Ferreira CR, Zein WM, Tifft CJ, Adams DR.

Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7.

Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism

Agrò M, Díaz-Nido J.

Int J Mol Sci. 2020 Nov 4;21(21):8251. doi: 10.3390/ijms21218251.

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era]

Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez JC, Tomás-Vila M, Martínez-Castellano F.

Rev Neurol. 2020 Nov 16;71(10):373-376. doi: 10.33588/rn.7110.2020520.

Dual genome-wide CRISPR knockout and CRISPR activation screens identify mechanisms that regulate the resistance to multiple ATR inhibitors

Schleicher EM, Dhoonmoon A, Jackson LM, Clements KE, Stump CL, Nicolae CM, Moldovan GL.

PLoS Genet. 2020 Nov 2;16(11):e1009176. doi: 10.1371/journal.pgen.1009176. eCollection 2020 Nov.

ERK activation precedes Purkinje cell loss in mice with Spinocerebellar ataxia type 17

Lin CW, Fan CH, Chang YC, Hsieh-Li HM.

Neurosci Lett. 2020 Nov 1;738:135337. doi: 10.1016/j.neulet.2020.135337. Epub 2020 Aug 30.

[Genomic profiling and personalized approach, utopia or future reality? A clinical case.]

Antonelli G, Ferraù F.

Recenti Prog Med. 2020 Nov;111(11):33e-37e. doi: 10.1701/3474.34581.

Label-free Electrochemical Detection of CGG Repeats on Inkjet Printable 2D Layers of MoS(2)

Asefifeyzabadi N, Alkhaldi R, Qamar AZ, Pater AA, Patwardhan M, Gagnon KT, Talapatra S, Shamsi MH.

ACS Appl Mater Interfaces. 2020 Nov 18;12(46):52156-52165. doi: 10.1021/acsami.0c14912. Epub 2020 Nov 5.

Stroke at High Altitude in an Experienced Sherpa Climber: A Case Report

Sherpa MT, Shrestha R.

High Alt Med Biol. 2020 Dec;21(4):406-408. doi: 10.1089/ham.2020.0157. Epub 2020 Nov 11.

Obesity alters the ovarian DNA damage response and apoptotic proteins

Clark KL, Roach CM, Keating AF.

Reproduction. 2020 Nov;160(5):751-760. doi: 10.1530/REP-20-0070.

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside

Mylvaganam S, Earnshaw R, Heymann G, Kalia SK, Kalia LV.

Curr Neuropharmacol. 2020 Nov 16. doi: 10.2174/1570159X18666201116145507. Online ahead of print.