Artículos por temáticas

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

Espeche LD, Sewell KE, Castro IH, Capece L, Pignataro MF, Dain L, Santos J.

Arch Biochem Biophys. 2021 Nov 19;715:109086. doi: 10.1016/j.abb.2021.109086. Online ahead of print.

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.

Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

Hübener-Schmid J, Kuhlbrodt K, Peladan J, Faber J, Santana MM, Hengel H, Jacobi H, Reetz K, Garcia-Moreno H, Raposo M, van Gaalen J, Infante J, Steiner KM, de Vries J, Verbeek MM, Giunti P, Pereira de

Mov Disord. 2021 Nov;36(11):2675-2681. doi: 10.1002/mds.28749. Epub 2021 Aug 16.

Neurochondrin immunoglobulin G - Associated myelopathy - Ataxia syndrome

Dominguez L, Collazo IVM, Sechi E, Bohm P, Chiriboga SL.

J Neurol Sci. 2021 Nov 25:120058. doi: 10.1016/j.jns.2021.120058. Online ahead of print.

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant

Paucar M, Tesi B, Eshtad S, Eriksson C, Hashim F, Nilsson D, Pourhamidi K, Hellström-Lindberg E, Bryceson YT, Svenningsson P.

Neurol Genet. 2021 Oct 28;7(6):e628. doi: 10.1212/NXG.0000000000000628. eCollection 2021 Dec.

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1

Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Navid F, Wassif CA, Cawley NX, Porter FD.

Mol Genet Metab. 2021 Nov 16:S1096-7192(21)00826-X. doi: 10.1016/j.ymgme.2021.11.008. Online ahead of print.

Instrumented gait analysis defines the walking signature of CACNA1A disorders

Indelicato E, Raccagni C, Runer S, Hannink J, Nachbauer W, Eigentler A, Amprosi M, Wenning G, Boesch S.

J Neurol. 2021 Nov 9. doi: 10.1007/s00415-021-10878-y. Online ahead of print.

Impact of SARS-CoV-2 Infection in Spinocerebellar Ataxia 12 Patients

Singh I, Swarup V, Shakya S, Kumar V, Gupta D, Rajan R, Radhakrishnan DM, Faruq M, Srivastava AK.

Mov Disord. 2021 Nov;36(11):2459-2460. doi: 10.1002/mds.28811. Epub 2021 Oct 7.

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature

Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA.

Ann Hum Genet. 2021 Nov 3. doi: 10.1111/ahg.12448. Online ahead of print.

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants

Rucheton B, Ewenczyk C, Gaignard P, de Sainte Agathe JM, Fauret AL, Saillour V, Leonard-Louis S, Touitou V, Mochel F.

Neurol Genet. 2021 Nov 3;7(6):e630. doi: 10.1212/NXG.0000000000000630. eCollection 2021 Dec.

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects

Fang M, Su Z, Abolhassani H, Zhang W, Jiang C, Cheng B, Luo L, Wu J, Wang S, Lin L, Wang X, Wang L, Aghamohammadi A, Li T, Zhang X, Hammarström L, Liu X.

J Clin Immunol. 2021 Nov 25. doi: 10.1007/s10875-021-01178-1. Online ahead of print.

Pseudorabies Virus Infection Triggers NF-κB Activation via the DNA Damage Response but Actively Inhibits NF-κB-Dependent Gene Expression

Romero N, Favoreel HW.

J Virol. 2021 Nov 23;95(24):e0166621. doi: 10.1128/JVI.01666-21. Epub 2021 Oct 6.

Atypical Presentation of Enterovirus D68 Infection as Opsoclonus-Myoclonus Syndrome

Martin MJ, Rose SC.

Pediatr Neurol. 2021 Nov;124:24-25. doi: 10.1016/j.pediatrneurol.2021.07.005. Epub 2021 Aug 4.

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease with Severe Reactive Gliosis

Heaven MR, Herren AW, Flint DL, Pacheco NL, Li J, Tang A, Khan F, Goldman JE, Phinney BS, Olsen ML.

Mol Cell Proteomics. 2021 Nov 19:100180. doi: 10.1016/j.mcpro.2021.100180. Online ahead of print.

Neuronal activity reorganization in motor cortex for successful locomotion after a lesion in the ventrolateral thalamus

Beloozerova IN.

J Neurophysiol. 2021 Nov 3. doi: 10.1152/jn.00191.2021. Online ahead of print.