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

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism

11 Oct 2018

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Cellular transport and secretion
Share to Skin and Cellular Biology Research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30337205
DOI: 10.1016/j.parkreldis.2018.10.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismPMID 30337205Read ↗

Novel CLTC variants cause new brain and kidney phenotypes.Semantic proximity Read ↗

Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsySemantic proximity Read ↗

Pathogenic mutations in Clathrin Heavy Chain associated with intellectual disability impair synaptic architecture and learning in <i>Drosophila</i>Semantic proximity Read ↗

Dysfunction of synaptic endocytic trafficking in Parkinson’s diseaseSemantic proximity Read ↗

Traffic jams II: an update of diseases of intracellular transport.Semantic proximity Read ↗

Traffic Jam: A Compendium of Human Diseases that Affect Intracellular Transport ProcessesSemantic proximity Read ↗

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.Semantic proximity Read ↗

Parkinson disease and clathrin coat dynamics at synapses, why not?Semantic proximity Read ↗

Mendelian disorders of membrane trafficking.Semantic proximity Read ↗

The neurodevelopmental spectrum of synaptic vesicle cycling disorders.Semantic proximity Read ↗

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorderSemantic proximity Read ↗

CLTC as a clinically novel gene associated with multiple malformations and developmental delaySemantic proximity Read ↗

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