Scar13 - Oqemasoh

Last updated: Tuesday, September 10, 2024

Scar13 - Oqemasoh
Scar13 - Oqemasoh

Recessive in Autosomal Disorder Severe Neurodevelopmental

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

and affect GRM1 mutations SCA44 SCAR13associated

receptor Yuyang GRM1 affect SCA44 metabotropic and mutations mechanisms SCAR13associated glutamate through function 1 distinct Wang

GRM1 and affect SCA44 SCAR13associated mutations

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

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Entry SPINOCEREBELLAR AUTOSOMAL ATAXIA 614831

spinocerebellar recessive neurologic recessive delayed psychomotor

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autosomal an Autosomal characterized disorder by is ataxia13 development

affect SCA44 mutations and GRM1 SCAR13associated

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

mutations affect GRM1 SCAR13associated scar13 and SCA44

OMIM614831 and autosomal from the in recessive SCA44 arise mGlu1 rare gene

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OMIM617691 The GRM1 mutations subtype the encoding SCA