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Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability

Metabotropic glutamate receptor 1 (mGluR1) plays a crucial role in slow excitatory postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The GRM1 gene is expressed mainly in the brain, with the highest expression in the cerebellum. Mutations in the GRM1 gene have previ...

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Detalles Bibliográficos
Autores principales: Protasova, Maria S., Andreeva, Tatiana V., Klyushnikov, Sergey A., Illarioshkin, Sergey N., Rogaev, Evgeny I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865416/
https://www.ncbi.nlm.nih.gov/pubmed/36675067
http://dx.doi.org/10.3390/ijms24021551