Artículos por temáticas

Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2

Perry MD, Evans MJ, Byrd PJ, Taylor MR.

J Pediatr Genet. 2020 Jul 20;10(4):311-314. doi: 10.1055/s-0040-1713909. eCollection 2021 Dec.

Ataxia and confusion in a 10-year-old girl

Chan CCH, Kukreti V, Inbar-Feigenberg M, Adrian-Gutierrez J.

Paediatr Child Health. 2020 May 27;26(3):137-138. doi: 10.1093/pch/pxaa058. eCollection 2021 Jun.

Differentiating episodic ataxia type 2 from migraine: a case report

Wu HJ, Lau WL, Chan TYC, Chen SPL, Ko CH.

Hong Kong Med J. 2020 Dec;26(6):526-527. doi: 10.12809/hkmj198306.

Spinocerebellar Ataxia Type 6: A Disorder of Connectivity?

Teaford M.

J Neurosci. 2020 Dec 2;40(49):9344-9345. doi: 10.1523/JNEUROSCI.0822-20.2020.

Common Variable Immunodeficiency Presenting as Anti-GAD Cerebellar Ataxia

Nguyen T, McCauley M, Zheng T, Rizvi SA.

R I Med J (2013). 2020 Dec 1;103(10):38-39.

Effects of Fe(2+)/Fe(3+) Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies

Doni D, Passerini L, Audran G, Marque SRA, Schulz M, Santos J, Costantini P, Bortolus M, Carbonera D.

Int J Mol Sci. 2020 Dec 17;21(24):9619. doi: 10.3390/ijms21249619.

West Nile Fever - Clinical and Epidemiological Characteristics. Review of the Literature and Contribution with Three Clinical Cases

Kotsev S, Christova I, Pishmisheva-Peleva M.

Folia Med (Plovdiv). 2020 Dec 31;62(4):843-850. doi: 10.3897/folmed.62.e51225.

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

Morello G, Gentile G, Spataro R, Spampinato AG, Guarnaccia M, Salomone S, La Bella V, Conforti FL, Cavallaro S.

J Pers Med. 2020 Dec 2;10(4):262. doi: 10.3390/jpm10040262.

SIRT3, a metabolic target linked to ataxia-telangiectasia mutated (ATM) gene deficiency in diffuse large B-cell lymphoma

Bhalla K, Jaber S, Reagan K, Hamburg A, Underwood KF, Jhajharia A, Singh M, Bhandary B, Bhat S, Nanaji NM, Hisa R, McCracken C, Creasy HH, Lapidus RG, Kingsbury T, Mayer D, Polster B, Gartenhaus RB.

Sci Rep. 2020 Dec 3;10(1):21159. doi: 10.1038/s41598-020-78193-6.

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

Nigri A, Sarro L, Mongelli A, Pinardi C, Porcu L, Castaldo A, Ferraro S, Grisoli M, Bruzzone MG, Gellera C, Taroni F, Mariotti C, Nanetti L.

Front Neurol. 2020 Dec 15;11:616419. doi: 10.3389/fneur.2020.616419. eCollection 2020.

Multiple cerebral lesions in a patient with refractory celiac disease: A case report

Horvath L, Oberhuber G, Chott A, Effenberger M, Tilg H, Gunsilius E, Wolf D, Iglseder S.

World J Gastroenterol. 2020 Dec 21;26(47):7584-7592. doi: 10.3748/wjg.v26.i47.7584.

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP.

Sci Rep. 2020 Dec 4;10(1):21269. doi: 10.1038/s41598-020-77394-3.

Cardioprotective Function of Green Rooibos (Aspalathus linearis) Extract Supplementation in Ex Vivo Ischemic Prediabetic Rat Hearts

Smit SE, Manirafasha C, Marais E, Johnson R, Huisamen B.

Planta Med. 2020 Dec 7. doi: 10.1055/a-1239-9236. Online ahead of print.

Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 disease

Datta S, Bowerman J, Hariri H, Ugrankar R, Eckert KM, Corley C, Vale G, McDonald JG, Henne WM.

Proc Natl Acad Sci U S A. 2020 Dec 11:202011124. doi: 10.1073/pnas.2011124117. Online ahead of print.

Meta-Analysis of Differentially Expressed Genes in the Substantia Nigra in Parkinson's Disease Supports Phenotype-Specific Transcriptome Changes

Phung DM, Lee J, Hong S, Kim YE, Yoon J, Kim YJ.

Front Neurosci. 2020 Dec 18;14:596105. doi: 10.3389/fnins.2020.596105. eCollection 2020.