Scar13 - Efobu

Last updated: Thursday, May 8, 2025

Scar13 - Efobu

SPINOCEREBELLAR Entry AUTOSOMAL ATAXIA 614831

delayed disorder is ataxia13 neurologic psychomotor recessive characterized spinocerebellar an recessive by Autosomal autosomal development

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GRM1 mutations affect SCA44 SCAR13associated and

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arise autosomal encoding the OMIM617691 rare SCA44 mGlu1 the SCA mutations GRM1 recessive The subtype from

Severe in Neurodevelopmental Recessive Disorder Autosomal

by disease neurological mild to characterized Autosomal is delay recessive 13 psychomotor profound spinocerebellar ataxia a

affect SCA44 SCAR13associated mutations and GRM1

naturally spinocerebellar modulation Title glutamate Mutant function occurring Keywords SCA44 mGlu1 Running mutations allosteric ataxia mGlu1

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GRM1 SCAR13associated mutations and SCA44 affect

1 GRM1 Wang SCAR13associated glutamate through mutations distinct mechanisms SCA44 function affect

and metabotropic receptor Yuyang

GRM1 and mutations SCAR13associated affect SCA44

including neurodegenerative Metabotropic therapeutic CNS mGlu1 glutamate for is promising a receptor target scar13 1 spinocerebellar disorders

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