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

Novel <i>CLN8</i> mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis

6 Oct 2009

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited lysosomal storage diseases and the prototype of childhood onset neurodegenerative disorders. To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. CLN8 was first identified as the causative gene for a late-onset form with progressive epilepsy and...

Read the complete abstract on PubMed

Topics

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

Share to Calcium signaling and nucleotide metabolism
Share to Cellular transport and secretion
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19807737
DOI: 10.1111/j.1399-0004.2009.01285.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel <i>CLN8</i> mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosisPMID 19807737Read ↗

Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.Semantic proximity Read ↗

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.Semantic proximity Read ↗

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.Semantic proximity Read ↗

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.Semantic proximity Read ↗

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Semantic proximity Read ↗

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Two novel CLN6 mutations in variant late‐infantile neuronal ceroid lipofuscinosis patients of Turkish originSemantic proximity Read ↗

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

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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