Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
37012327 (PubMed )
Supplement: 41431_2023_1344_MOESM2_ESM.pdf
Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.
Bizzari S et al.
Frontiers in Genetics, 2023
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
Kizhakkedath P et al.
Febs Open Bio, 2019
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
Kizhakkedath P et al.
Scientific Reports, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
Micalizzi A et al.
Neurogenetics, 2016
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Kizhakkedath P et al.
Biochimica Et Biophysica Acta, 2014
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Ali BR et al.
Bmc Medical Genetics, 2012
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
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