Associated Papers
Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.
Ahmad R et al.
Cerebellum (london, England), 2025
SCA44- and SCAR13-associated GRM1 mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms.
Wang Y et al.
British Journal of Pharmacology, 2024
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
36792598 (PubMed )
Supplement: 41467_2023_36606_MOESM4_ESM.xlsx › Supplementary_Data_1
Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.
Protasova MS et al.
International Journal of Molecular Sciences, 2023
36675067 (PubMed )
Supplement: ijms-24-01551-s001.zip › Supplemental_Table_S1.xlsx › Table_S1
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Cabet S et al.
European Journal of Medical Genetics, 2019
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