Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2023
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R et al.
Orphanet Journal of Rare Diseases, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF et al.
Brain : a Journal of Neurology, 2019
The neuronal ceroid-lipofuscinoses.
Bennett MJ et al.
Developmental Disabilities Research Reviews, 2013
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
Pérez-Poyato M S et al.
Revista De Neurologia, 2012
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
Cao Y et al.
Plos One, 2011
Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
Al-Muhaizea MA et al.
Pediatric Neurology, 2009
Neuronal ceroid lipofuscinoses.
Jalanko A et al.
Biochimica Et Biophysica Acta, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N et al.
Biochemical and Biophysical Research Communications, 2009
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
Getty AL et al.
Expert Opinion on Medical Diagnostics, 2007
Molecular genetics of the NCLs -- status and perspectives.
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.
Teixeira CA et al.
Biochimica Et Biophysica Acta, 2006
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
Mole SE et al.
Experimental Cell Research, 2004
Current state of clinical and morphological features in human NCL.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2004
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Teixeira CA et al.
Human Mutation, 2003
The neuronal ceroid-lipofuscinoses.
Haltia M
Journal of Neuropathology and Experimental Neurology, 2003
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
Wheeler RB et al.
American Journal of Human Genetics, 2002