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

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Annals of neurology - 1 Sept 2004

Schulz Angela, Dhar Sumeer, Rylova Svetlana, Dbaibo Ghassan, Alroy Joseph, Hagel Christian, Artacho Isabelo, Kohlschütter Alfried, Lin Simon, Boustany Rose-Mary

Abstract excerpt

We describe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, CLN9. We therefore refer to the new variant as CLN9-deficient. Two Serbian sisters and two German brothers are described. Their clinical history is characteristic for juvenile NCL. They show similar gene expression patterns. The existence of this variant is supported by the presence of...

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis
Share to Cell Adhesion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line

Share to Child, Preschool

Share to Fibroblasts

Share to Membrane Proteins

Share to Neuronal Ceroid-Lipofuscinoses

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 15349861
DOI: 10.1002/ana.20187

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.PMID 15349861Read ↗

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.Semantic proximity Read ↗

The genetic spectrum of human neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosisSemantic proximity Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.Semantic proximity Read ↗

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosisSemantic proximity Read ↗

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

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.Semantic proximity Read ↗

Molecular genetics of the neuronal ceroid lipofuscinoses.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 ↗

Batten disease: four genes and still counting.Semantic proximity Read ↗

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