Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.

Human genetics - 1 Aug 2023

Panjeshahi Samareh, Karimzadeh Parvaneh, Movafagh Abolfazl, Ahmadabadi Farzad, Rahimian Elham, Alijanpour Sahar, Miryounesi Mohammad

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases which are considered among the most frequent causes of dementia in childhood worldwide This study aimed to identify the gene variants, molecular etiologies, and clinical features in 23 unrelated Iranian families with NCL. In total, 29 patients with neuronal ceroid lipofuscinoses (NCLs), diagnosed based on clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Iran
Share to Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Membrane Transport Proteins

Share to Molecular Chaperones

Share to Mutation

Share to Neuronal Ceroid-Lipofuscinoses

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 37074398
DOI: 10.1007/s00439-023-02556-y

Genes

CLN3
CLN5
CLN6
CLN8
MFSD8
PPT1
TPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.PMID 37074398Read ↗

Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutationsSemantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.Semantic proximity Read ↗

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome SequencingSemantic proximity Read ↗

[Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients].Semantic proximity Read ↗

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.Semantic proximity Read ↗

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid LipofuscinosesSemantic proximity Read ↗

Neuronal ceroid lipofuscinoses: classification and diagnosis.Semantic proximity Read ↗

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Towards understanding the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.