Artículos por temáticas

Spinocerebellar ataxia type 23 (SCA23): a review

Wu F, Wang X, Li X, Teng H, Tian T, Bai J.

J Neurol. 2021 Dec;268(12):4630-4645. doi: 10.1007/s00415-020-10297-5. Epub 2020 Nov 11.

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation

Raslan IR, França MC Jr, Oliveira JB, Schuurs-Hoeijmakers JHM, Pfundt R, Kok F, Barsottini OGP, Pedroso JL.

Parkinsonism Relat Disord. 2021 Nov;92:33-35. doi: 10.1016/j.parkreldis.2021.10.008. Epub 2021 Oct 14.

Tacrolimus-induced neurotoxicity from bipolar disorder to status epilepticus under the therapeutic serum level: a case report

Jin B, Kim GY, Cheon SM.

BMC Neurol. 2021 Nov 15;21(1):448. doi: 10.1186/s12883-021-02479-z.

Acute CNS demyelination in a subject with cerebellar ataxia following the first dose of COVID-19 vaccine; a case report

Mirmosayyeb O, Bagherieh S, Shaygannejad V.

Hum Vaccin Immunother. 2021 Oct 29:1-3. doi: 10.1080/21645515.2021.1971920. Online ahead of print.

Surgical removal of an intramedullary chopstick fragment penetrating the spinal cord in a cat

Kim K.

J Vet Med Sci. 2021 Oct 31;83(11):1670-1673. doi: 10.1292/jvms.20-0706. Epub 2021 Sep 14.

A Chinese Han pedigree with Huntington disease mimicking spinocerebellar ataxia

Mao C, Su Y, Wang H, Fan L, Zheng H, Wang T, Li X, Zhang S, Hu Z, Luo H, Yang J, Shi C, Xu Y.

J Neurol Sci. 2021 Nov 15;430:119985. doi: 10.1016/j.jns.2021.119985. Epub 2021 Sep 14.

[Two cases of T lymphocyte malignant tumor secondary to ataxia telangiectasia syndrome]

Huang XH, Gao YJ, Chen CC, Han YL, Wang Z, Shen SH, Hu WT.

Zhonghua Er Ke Za Zhi. 2021 Nov 2;59(11):973-975. doi: 10.3760/cma.j.cn112140-20210406-00294.

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report

Trevisan L, Grazzini M, Cianflone A, Accogli A, Finocchi C, Capello E, Saitta L, Grandis M, Roccatagliata L, Mandich P.

Neurocase. 2021 Nov 9:1-5. doi: 10.1080/13554794.2021.1999984. Online ahead of print.

A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes

Haas E, Incebacak RD, Hentrich T, Huridou C, Schmidt T, Casadei N, Maringer Y, Bahl C, Zimmermann F, Mills JD, Aronica E, Riess O, Schulze-Hentrich JM, Hübener-Schmid J.

Mol Neurobiol. 2021 Oct 30. doi: 10.1007/s12035-021-02610-8. Online ahead of print.

Magnetic resonance imaging findings and clinical management of suspected intracranial hypovolemia after transfrontal craniotomy in a dog

Cloquell A, Kaczmarska A, Gutierrez-Quintana R, José-López R.

Vet Surg. 2021 Nov;50(8):1696-1703. doi: 10.1111/vsu.13586. Epub 2021 Feb 20.

4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone-Induced Histone Acetylation via α7nAChR-Mediated PI3K/Akt Activation and Its Impact on γ-H2AX Generation

Shikata M, Toyooka T, Komaki Y, Ibuki Y.

Chem Res Toxicol. 2021 Nov 16. doi: 10.1021/acs.chemrestox.1c00287. Online ahead of print.

MELAS syndrome: an acute stroke-like episode complicated by renal tubular acidosis

Ni Cathain D, Browne E, Skehan K, Boyle K.

BMJ Case Rep. 2021 Nov 2;14(11):e245898. doi: 10.1136/bcr-2021-245898.

Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression

Li Y, Li J, Wang J, Lynch DR, Shen X, R Corey D, Parekh D, Bhat B, Woo C, Cherry JJ, Napierala JS, Napierala M.

Nucleic Acids Res. 2021 Nov 18;49(20):11560-11574. doi: 10.1093/nar/gkab954.

The PTEN and ATM axis controls the G1/S cell cycle checkpoint and tumorigenesis in HER2-positive breast cancer

Bassi C, Fortin J, Snow BE, Wakeham A, Ho J, Haight J, You-Ten A, Cianci E, Buckler L, Gorrini C, Stambolic V, Mak TW.

Cell Death Differ. 2021 Nov;28(11):3036-3051. doi: 10.1038/s41418-021-00799-8. Epub 2021 May 31.

[Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning]

Gauvrit M, Jaffré S, Morin J, Hervé C, Alami H, Blanc FX.

Rev Mal Respir. 2021 Nov;38(9):946-950. doi: 10.1016/j.rmr.2021.09.007. Epub 2021 Oct 24.