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
Spinocerebellar Ataxia 44 Caused by a Novel GRM1 Variant: Reviewing the Contrasting Pathogenic Mechanisms Underlying Two GRM1-Associated Hereditary Ataxias.
Lan SC et al.
Cerebellum (london, England), 2025
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
Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2021
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