Associated Papers
Autosomal dominant Kufs disease in a Georgian adult woman: A case report.
Papiashvili N et al.
Epilepsy & Behavior Reports, 2025
CHIP protects lysosomes from CLN4 mutant-induced membrane damages.
Lee J et al.
Biorxiv : the Preprint Server for Biology, 2025
L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration.
Guo T et al.
Molecular Neurobiology, 2024
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
CSPα in neurodegenerative diseases.
Huang L et al.
Frontiers in Aging Neuroscience, 2022
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N et al.
Clinical Genetics, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I et al.
European Journal of Human Genetics : Ejhg, 2020
DNAJC proteins and pathways to parkinsonism.
Roosen DA et al.
The Febs Journal, 2019
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
Jarrett P et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis.
Benitez BA et al.
Scientific Reports, 2017
DnaJ/Hsp40 Family and Parkinson's Disease.
Hasegawa T et al.
Frontiers in Neuroscience, 2017
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.
Kollmann K et al.
Biochimica Et Biophysica Acta, 2013
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Cotman SL et al.
Current Neurology and Neuroscience Reports, 2013
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
Cadieux-Dion M et al.
Clinical Genetics, 2013
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
Cotman SL et al.
Clinical Lipidology, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M et al.
Plos One, 2012
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Nosková L et al.
American Journal of Human Genetics, 2011
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez BA et al.
Plos One, 2011