Associated Papers
Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?
Peggion C et al.
Biology Direct, 2025
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A et al.
Bmc Medical Genomics, 2023
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
Vallese F et al.
Cell Death & Disease, 2022
Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.
Strehler EE et al.
Neuroscience Letters, 2018
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Feyma T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.
Calì T et al.
The Journal of Biological Chemistry, 2015
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