Associated Papers
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.
Thuppanattumadam Ananthasubramanian S et al.
Journal of the Neurological Sciences, 2025
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Saleh MM et al.
Pediatric Neurology, 2024
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
O'Neal M et al.
Pediatric Neurology, 2024
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.
Rus CM et al.
Scientific Reports, 2023
Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.
Kulsirichawaroj P et al.
Pediatric Neurology, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
Ben Younes T et al.
Clinical Genetics, 2022
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.
Matsumoto A et al.
Brain & Development, 2019
Two cases of variant late infantile ceroid lipofuscinosis in Jordan.
Nafi O et al.
World Journal of Clinical Cases, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M et al.
Brain : a Journal of Neurology, 2009
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
Mole SE et al.
Experimental Cell Research, 2004
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Ebrahimi-Fakhari D et al.
Movement Disorders Clinical Practice, 0