» Articles » PMID: 5132971

A Dominant Form of Neuronal Ceroid-lipofuscinosis

Overview
Journal Brain
Specialty Neurology
Date 1971 Jan 1
PMID 5132971
Citations 30
Authors
Affiliations
Soon will be listed here.
Citing Articles

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J, Nair A, Bhavsar R, Godbole K, Datar C, Nampoothiri S JIMD Rep. 2024; 65(2):85-101.

PMID: 38444573 PMC: 10910243. DOI: 10.1002/jmd2.12407.


CSPα in neurodegenerative diseases.

Huang L, Zhang Z Front Aging Neurosci. 2022; 14:1043384.

PMID: 36466613 PMC: 9712954. DOI: 10.3389/fnagi.2022.1043384.


CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

Badura-Stronka M, Winczewska-Wiktor A, Pietrzak A, Hirschfeld A, Zemojtel T, Wolynska K Genes (Basel). 2021; 12(7).

PMID: 34201538 PMC: 8307369. DOI: 10.3390/genes12070956.


Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.

Naseri N, Sharma M, Velinov M Clin Genet. 2020; 99(1):111-118.

PMID: 32783189 PMC: 7899141. DOI: 10.1111/cge.13829.


Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Berkovic S, Staropoli J, Carpenter S, Oliver K, Kmoch S, Anderson G Neurology. 2016; 87(6):579-84.

PMID: 27412140 PMC: 4977374. DOI: 10.1212/WNL.0000000000002943.