Artículos por temáticas

Association of mitochondrial genomic background with risk of Multiple System Atrophy

Valentino RR, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA.

Parkinsonism Relat Disord. 2020 Dec;81:200-204. doi: 10.1016/j.parkreldis.2020.10.040. Epub 2020 Oct 29.

Quantification and characterization of the 5'exonuclease activity of the lysosomal nuclease PLD3 by a novel cell-based assay

Cappel C, Gonzalez AC, Damme M.

J Biol Chem. 2020 Dec 6:jbc.RA120.015867. doi: 10.1074/jbc.RA120.015867. Online ahead of print.

Long-term persistence of infectious Zika virus: Inflammation and behavioral sequela in mice

Ireland DDC, Manangeeswaran M, Lewkowicz AP, Engel K, Clark SM, Laniyan A, Sykes J, Lee HN, McWilliams IL, Kelley-Baker L, Tonelli LH, Verthelyi D.

PLoS Pathog. 2020 Dec 10;16(12):e1008689. doi: 10.1371/journal.ppat.1008689. eCollection 2020 Dec.

Phosphorylation of seryl-tRNA synthetase by ATM/ATR is essential for hypoxia-induced angiogenesis

Shi Y, Liu Z, Zhang Q, Vallee I, Mo Z, Kishi S, Yang XL.

PLoS Biol. 2020 Dec 22;18(12):e3000991. doi: 10.1371/journal.pbio.3000991. eCollection 2020 Dec.

Adult diffuse midline gliomas: Clinical, radiological, and genetic characteristics

Dono A, Takayasu T, Ballester LY, Esquenazi Y.

J Clin Neurosci. 2020 Dec;82(Pt A):1-8. doi: 10.1016/j.jocn.2020.10.005. Epub 2020 Nov 1.

Neglected woman with hyperemesis gravidarum leading to Wernicke encephalopathy

Dasari P, Priyadarshini S.

BMJ Case Rep. 2020 Dec 12;13(12):e238545. doi: 10.1136/bcr-2020-238545.

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers

Wang Z, Lane C, Terza M, Khemani P, Lui S, McKinney WS, Mosconi MW.

Brain Sci. 2020 Dec 24;11(1):E13. doi: 10.3390/brainsci11010013.

[Blepharoptosis and dysarthria in a boy aged 2 years]

Zhao LR, Zhao JJ, Fu Z, Fu JX, Wang T, Yang XG, Yang GL.

Zhongguo Dang Dai Er Ke Za Zhi. 2020 Dec;22(12):1320-1325. doi: 10.7499/j.issn.1008-8830.2007142.

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, Faghihi MA.

Front Genet. 2020 Dec 22;11:585136. doi: 10.3389/fgene.2020.585136. eCollection 2020.

Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH

Russo A, Gobbi G, Pini A, Møller RS, Rubboli G.

Epileptic Disord. 2020 Dec 1;22(6):802-806. doi: 10.1684/epd.2020.1222.

Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

Hotait M, Dirani M, El Halabi T, Beydoun A.

Front Genet. 2020 Dec 3;11:581253. doi: 10.3389/fgene.2020.581253. eCollection 2020.

Wernicke's encephalopathy: An uncommon complication from hyperemesis gravidarum

Shah R, Malhamé I, Fayek M, Merolli A, Mehta N.

Obstet Med. 2020 Dec;13(4):198-200. doi: 10.1177/1753495X18811515. Epub 2019 Jan 31.

Anti-CV2/CRMP5 antibody-positive paraneoplastic neurological syndromes with chronic intestinal pseudo-obstruction in a small-cell lung cancer patient: a case report and literature review

Yan J, Chen Z, Liang Y, Yang H, Cao L, Zhou Y, Zhao Y, Zhang Y.

J Int Med Res. 2020 Dec;48(12):300060520974466. doi: 10.1177/0300060520974466.

Autoimmune rhomboencephalitis: A pediatric case report

Marino A, Canonico F, Pinzani RM, Andreotti M, Varisco T, Cappellari AM.

Turk Pediatri Ars. 2020 Dec 16;55(4):449-452. doi: 10.14744/TurkPediatriArs.2020.26576. eCollection 2020.

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis

Burgess J, Behzad-Noori D, Longman C, Brennan K.

BMJ Case Rep. 2020 Dec 22;13(12):e237978. doi: 10.1136/bcr-2020-237978.