Associated Papers
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh N et al.
Human Genomics, 2024
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
35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.
Luo S et al.
Frontiers in Genetics, 2020
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
Parvin S et al.
Neuromolecular Medicine, 2019
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L et al.
Journal of Child Neurology, 2018
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
Staropoli JF et al.
Bmc Medical Genetics, 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
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