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About 2,403 results

ALLMedicine™ Spinocerebellar Ataxia Center

Research & Reviews  959 results

CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar...
https://doi.org/10.1038/s41398-021-01605-2 10.1093/brain/awy016 10.1212/WNL.0000000000001711 10.1038/s41572-019-0074-3 10.1016/j.pneurobio.2011.11.006 10.1038/s41582-018-0051-6 10.1038/nrn.2017.92 10.1007/s13311-019-00810-8 10.1016/j.cell.2007.11.019 10.1038/nature10761 10.1016/j.stemcr.2017.01.022 10.1007/s00415-018-9076-4 10.1155/2019/2105607 10.1002/jnr.22011 10.1155/2016/7909380 10.1016/j.ab.2016.10.021 10.1016/j.omtn.2019.12.012 10.1016/j.omtn.2017.04.005 10.1016/j.omtn.2017.06.019 10.1038/nature22044 10.1016/j.nbd.2019.104635 10.1016/j.tig.2015.02.003 10.1038/nprot.2013.143 10.1126/science.1258096 10.1016/j.cell.2013.08.021 10.1089/scd.2017.0209 10.1016/j.stem.2012.04.026 10.1038/nbt.2675 10.1126/sciadv.aap9004 10.1016/j.stemcr.2017.02.019 10.1172/JCI92087 10.1016/j.scr.2019.101555 10.1016/j.scr.2021.102289 10.1038/nmeth.2812 10.1093/bioinformatics/btu354 10.1016/j.scr.2020.101816 10.1038/nprot.2012.116 10.1038/tp.2015.203 10.1038/nature10671 10.1007/s12035-019-01734-2 10.1038/nn.2638 10.1016/j.celrep.2014.12.051 10.1038/srep09232 10.1038/s41380-018-0018-4 10.1007/s13311-019-00798-1 10.1038/mt.2013.144 10.1016/j.nbd.2013.04.019 10.1002/ana.25264 10.1093/brain/awz328 10.1007/s13311-018-00696-y 10.1002/med.21425 10.1016/j.ymthe.2016.11.010 10.1016/j.omtn.2019.07.009 10.3389/fnmol.2017.00196 10.1093/brain/aws177 10.2174/1381612822666161227121912 10.1016/j.omtn.2017.04.018 10.1038/s41598-021-89312-2 10.1007/s12311-017-0913-2 10.1016/j.celrep.2016.10.026 10.1093/hmg/ddp482 10.1016/j.nbd.2007.06.005 10.1038/s41467-018-05320-3 10.1016/j.scr.2019.101504 10.1038/s41598-018-37774-2 10.1038/srep30436 10.3389/fneur.2017.00485 10.1007/s12035-018-1069-x 10.3389/fnins.2021.621996 10.1016/j.mrgentox.2013.06.023 10.1002/mds.27292 10.1007/s12035-019-01643-4
Translational Psychiatry; He L, Wang S et. al.

Sep 19th, 2021 - Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3. The accumulation of the mutant ataxin-3 proteins carrying expande...

Safety and Outcomes of Dentate Nucleus Deep Brain Stimulation for Cerebellar Ataxia.
https://doi.org/10.1007/s12311-021-01326-8 10.1038/s41572-019-0074-3 10.1016/j.parkreldis.2020.09.001 10.1016/j.brs.2017.11.015 10.1002/ana.25464 10.3109/02688697.2015.1025697 10.1016/j.parkreldis.2019.10.029 10.1212/WNL.0000000000002204 10.3171/2018.11.JNS182180 10.1002/mdc3.12876 10.1016/S1474-4422(15)00201-X 10.1016/j.parkreldis.2016.03.005
Cerebellum (London, England); Cury RG, França C et. al.

Sep 5th, 2021 - Cerebellar symptoms remain orphan of treatment options despite being prevalent and incapacitating. Investigate whether dentate nucleus deep brain stimulation (DN DBS) is safe and leads to improvements in cerebellar symptoms when compared to sham s...

Exploring the clinical meaningfulness of the Scale for the Assessment and Rating of Ata...
https://doi.org/10.1016/j.parkreldis.2021.08.014
Parkinsonism & Related Disorders; Maas RPPWM, van de Warrenburg BPC

Sep 4th, 2021 - The Scale for the Assessment and Rating of Ataxia (SARA) is commonly used as the primary outcome measure in therapeutic trials. Driven by spontaneous comments from ataxia patients participating in a trial, we aimed to examine the clinical meaningf...

Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish m...
https://doi.org/10.1242/dmm.049023
Disease Models & Mechanisms; Robinson KJ, Tym MC et. al.

Sep 3rd, 2021 - Spinocerebellar ataxia-3 (SCA3, also Machado Joseph disease), is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein. In...

Neuropsychological assessment of Boucher-Neuhäuser syndrome: a case report.
https://doi.org/10.1080/13854046.2021.1965219
The Clinical Neuropsychologist; Merolla S, Borella M et. al.

Aug 31st, 2021 - Boucher-Neuhäuser Syndrome (BNS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, spinocerebellar ataxia, and chorioretinal syndrome, and associated with a variant in the PNPLA6 gene. Although many reports hav...

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News  2 results

Discoveries Could Slow Dysfunction in Spinocerebellar Ataxia Type 1
https://www.mdedge.com/familymedicine/article/46776/neurology/discoveries-could-slow-dysfunction-spinocerebellar-ataxia/page/0/1
Internal Medicine News;

Dec 19th, 2011 - Dr. Cvetanovic and her associates found that the expression of the gene for VEGF, an angiogenic and neurotrophic growth factor, was downregulated in the cerebellar Purkinje neurons of SCA1 mice before they showed any behavioral or pathologic signs.

Four Alzheimer's Susceptibility Genes Discovered
https://www.mdedge.com/clinicalneurologynews/article/48129/alzheimers-cognition/four-alzheimers-susceptibility-genes
Michele G. Sullivan

The first family-based genome-wide association study for Alzheimer's disease has identified four new genes that may significantly affect the risk of developing the disease. The gene with the strongest association lies on chromosome 14, not far fro.

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