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About 123 results

ALLMedicine™ Spinocerebellar Ataxia Type 6 Center

Research & Reviews  48 results

Cerebellar contribution to threat probability in a SCA6 mouse model.
https://doi.org/10.1093/hmg/ddac135
Human Molecular Genetics; Bohne P, Rybarski M et. al.

Jun 17th, 2022 - Fear and anxiety have proven to be essential during the evolutionary process. However, the mechanisms involved in recognizing and categorizing threat probability (i.e. low to high) to elicit the appropriate defensive behavior has yet to be determi...

Criteria-unfulfilled multiple system atrophy at an initial stage exhibits laterality of...
https://doi.org/10.1016/j.jns.2022.120281
Journal of the Neurological Sciences; Furuta M, Sato M et. al.

May 25th, 2022 - To elucidate clinically useful imaging characteristics of multiple system atrophy with predominant cerebellar ataxia (MSA-C) at the initial stage showing pure cerebellar ataxia but unfilling consensus criteria (MSA-pc), clinical and neuroradiologi...

The Electrophysiological Findings in Spinocerebellar Ataxia Type 6: Evidence From 24 Pa...
https://doi.org/10.1097/WNP.0000000000000855
Journal of Clinical Neurophysiology : Official Publicatio... Zhang W, Jasinarachchi M et. al.

May 27th, 2021 - Peripheral neuropathy has been reported commonly in several spinocerebellar ataxia (SCA) types. To date, there is a lack of robust evidence for neuropathy or neuronopathy in SCA type 6 (SCA6). Here, we aim to evaluate the presence of neuropathy or...

Spinocerebellar Ataxia Type 6: A Disorder of Connectivity?
https://doi.org/10.1074/jbc.272.3.1601
The Journal of Neuroscience : the Official Journal of The... Inohara-Ochiai M, Nakayama T et. al.

Dec 4th, 2020 - The Bacillus sp. SAM1606 alpha-glucosidase with a broad substrate specificity is the only known alpha-glucosidase that can hydrolyze alpha,alpha'-trehalose efficiently. The enzyme exhibits a very high sequence similarity to the oligo-1,6-glucosida...

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a no...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183684
BMC Neurology; Nardello R, Plicato G et. al.

Apr 28th, 2020 - To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant d...

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Clinicaltrials.gov  1 results

Parkinsonism in Spinocerebellar Ataxia Type 6
https://clinicaltrials.gov/ct2/show/NCT01934998

Apr 28th, 2015 - Specifically, we would expect to see Parkinsonism and other non-ataxia symptoms are more commonly present in SCA6 patients than we used to think. Parkinsonism is associated with the loss of DAT in striatum. Parkinsonism and other non-ataxia sympto...

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