Associated Papers
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2021
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M et al.
Bmc Medical Genetics, 2020
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
Hausman-Kedem M et al.
Neurogenetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.
Hady-Cohen R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
Feinstein M et al.
Journal of Medical Genetics, 2014
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