Artículos por temáticas

Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study

Bertuccelli M, Bisiacchi P, Del Felice A.

Cerebellum. 2024 Oct;23(5):1848-1858. doi: 10.1007/s12311-024-01678-x. Epub 2024 Mar 5.

[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review]

Chu M, Xu D, Xie J, Zhang X, Wang M, Li J, Ma Y, Li X, Wang J, Jia T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Oct 10;41(10):1195-1200. doi: 10.3760/cma.j.cn511374-20240313-00171.

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1

Cesaroni CA, Pisanò G, Trimarchi G, Caraffi SG, Scandolo G, Gnazzo M, Frattini D, Spagnoli C, Rizzi S, Dittadi C, Sigona G, Garavelli L, Fusco C.

Cerebellum. 2024 Oct;23(5):1768-1771. doi: 10.1007/s12311-023-01617-2. Epub 2023 Oct 13.

The multifaceted role of quaking protein in neuropsychiatric disorders and tumor progression

Guo Z, Liu B, Wei Y, Wang H, Zhang Q, Hong X.

Front Neurosci. 2024 Oct 16;18:1341114. doi: 10.3389/fnins.2024.1341114. eCollection 2024.

Cardiac Tamponade: A Late and Rare Finding of Hypothyroidism

Al Janabi T, Gupta V, Naintara F, Seidenberg J, Hoskote A.

Cureus. 2024 Oct 1;16(10):e70617. doi: 10.7759/cureus.70617. eCollection 2024 Oct.

Unilateral MRIgFUS thalamotomy: Long-term follow-up in fragile X-associated tremor/ataxia syndrome

Campins-Romeu M, Conde-Sardón R, León-Guijarro JL, Sastre-Bataller I.

Neurologia (Engl Ed). 2024 Oct;39(8):710-712. doi: 10.1016/j.nrleng.2024.09.004.

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S.

Int J Mol Sci. 2024 Oct 9;25(19):10841. doi: 10.3390/ijms251910841.

Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype

Rodríguez-Labrada R, Canales-Ochoa N, Galicia-Polo ML, Cruz-Rivas E, Romanzetti S, Peña-Acosta A, Estupiñán-Rodríguez A, Vázquez-Mojena Y, Dogan I, Auburger G, Reetz K, Velázquez-Pérez L.

Cerebellum. 2024 Oct;23(5):1839-1847. doi: 10.1007/s12311-024-01674-1. Epub 2024 Mar 4.

A TRilogy of ATR's Non-Canonical Roles Throughout the Cell Cycle and Its Relation to Cancer

Joo YK, Ramirez C, Kabeche L.

Cancers (Basel). 2024 Oct 19;16(20):3536. doi: 10.3390/cancers16203536.

Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)

Vogel AP, Spencer C, Burke K, de Bruyn D, Gibilisco P, Blackman S, Vojtech JM, Kathiresan T.

Cerebellum. 2024 Oct;23(5):2142-2151. doi: 10.1007/s12311-024-01675-0. Epub 2024 Mar 7.

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches

Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR.

Cerebellum. 2024 Oct;23(5):2152-2168. doi: 10.1007/s12311-024-01703-z. Epub 2024 May 18.

Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34

Gazulla J, Berciano J.

Cerebellum. 2024 Oct;23(5):2193-2196. doi: 10.1007/s12311-024-01705-x. Epub 2024 May 21.

New and Emerging Drug and Gene Therapies for Friedreich Ataxia

Scott V, Delatycki MB, Tai G, Corben LA.

CNS Drugs. 2024 Oct;38(10):791-805. doi: 10.1007/s40263-024-01113-z. Epub 2024 Aug 8.

A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia

Mosbach V, Puccio H.

Biochim Biophys Acta Mol Cell Res. 2024 Oct;1871(7):119809. doi: 10.1016/j.bbamcr.2024.119809. Epub 2024 Aug 11.

The role of interferon beta in neurological diseases and its potential therapeutic relevance

Farhangian M, Azarafrouz F, Valian N, Dargahi L.

Eur J Pharmacol. 2024 Oct 15;981:176882. doi: 10.1016/j.ejphar.2024.176882. Epub 2024 Aug 10.