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Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia.
J Neurol. 2016 Nov;263(11):2179-2187. doi: 10.1007/s00415-016-8248-3. Epub 2016 Aug 8.
J Neurol. 2016.
PMID: 27502082
We aimed to examine the relationship between mGluR1 and cerebellar ataxia. Families with spinocerebellar ataxia type 19/22 (SCA19/22) and SCA6, six patients with sporadic SCA, and 26 healthy subjects underwent PET using an mGluR1 radiotracer. .. …
We aimed to examine the relationship between mGluR1 and cerebellar ataxia. Families with spinocerebellar ataxia type …
An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.
Ågren R, Geerdink N, Brunner HG, Paucar M, Kamsteeg EJ, Sahlholm K.
Ågren R, et al.
Int J Mol Sci. 2023 Jun 30;24(13):10924. doi: 10.3390/ijms241310924.
Int J Mol Sci. 2023.
PMID: 37446101
Free PMC article.
KCND3 encodes voltage-gated potassium channel D3 (Kv4.3) and mutations have been associated with spinocerebellar ataxia type 19/22 (SCA19/22) and cardiac arrhythmias. ...Mild developmental delay with impaired fluid reasoning was observed …
KCND3 encodes voltage-gated potassium channel D3 (Kv4.3) and mutations have been associated with spinocerebellar ataxia typ …
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