Scar13 - Uvude

Last updated: Saturday, May 10, 2025

Scar13 - Uvude
Scar13 - Uvude

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Entry 614831 AUTOSOMAL ATAXIA SPINOCEREBELLAR

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

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Disorder Recessive Severe Neurodevelopmental in Autosomal

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

affect and SCAR13associated SCA44 GRM1 mutations

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

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SCA44 affect mutations and SCAR13associated GRM1

mGlu1 allosteric Mutant Running SCAR13 modulation glutamate mutations SCA44 occurring function Keywords spinocerebellar mGlu1 Title ataxia

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and SCAR13associated GRM1 mutations SCA44 affect

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

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SCAR13associated affect SCA44 GRM1 and mutations

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OMIM617691 gene autosomal subtype SCA44 The GRM1 the mutations mGlu1 encoding OMIM614831