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.

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.

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.

Overexpression of FKH-2/FOXG1 is neuroprotective in a C. elegans model of Machado-Joseph disease

Fardghassemi Y, Parker JA.

Exp Neurol. 2020 Dec 5;337:113544. doi: 10.1016/j.expneurol.2020.113544. Online ahead of print.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA,

J Neurol Sci. 2020 Dec 3;420:117260. doi: 10.1016/j.jns.2020.117260. 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.

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.

Thoracic Vertebral Canal Stenosis Associated with Vertebral Arch Anomalies in Small Brachycephalic Screw-Tail Dog Breeds

Conte A, Bernardini M, De Decker S, Ricco C, Behr S, Sanchez-Masian D, Cherubini GB, De Risio L, Gutierrez-Quintana R.

Vet Comp Orthop Traumatol. 2020 Dec 7. doi: 10.1055/s-0040-1721375. Online ahead of print.

Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis

Chaudhry D, Chaudhry A, Muzaffar J, Monksfield P, Bance M.

J Int Adv Otol. 2020 Dec;16(3):411-431. doi: 10.5152/iao.2020.9035.

A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype

Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK.

Mol Genet Metab. 2020 Dec;131(4):398-404. doi: 10.1016/j.ymgme.2020.11.006. Epub 2020 Nov 24.

ATM inhibition enhances Auranofin-induced oxidative stress and cell death in lung cell lines

Ehrenfeld V, Heusel JR, Fulda S, van Wijk SJL.

PLoS One. 2020 Dec 18;15(12):e0244060. doi: 10.1371/journal.pone.0244060. eCollection 2020.

Small molecule 2,3-DCPE induces S phase arrest by activating the ATM/ATR-Chk1-Cdc25A signaling pathway in DLD-1 colon cancer cells

Bai B, Shan L, Wang J, Hu J, Zheng W, Lv Y, Chen K, Xu D, Zhu H.

Oncol Lett. 2020 Dec;20(6):294. doi: 10.3892/ol.2020.12157. Epub 2020 Sep 25.

Purkinje cell (PC) antibody positivity in a patient with autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy

Xu L, Xian W, Li J, Yao X, Long Y.

Int J Neurosci. 2020 Dec 30:1-6. doi: 10.1080/00207454.2020.1860965. Online ahead of print.

Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia

Britti E, Delaspre F, Sanz A, Medina-Carbonero M, Llovera M, Purroy R, Mincheva-Tasheva S, Tamarit J, Ros J.

Biochem J. 2020 Dec 11:BCJ20200331. doi: 10.1042/BCJ20200331. Online ahead of print.