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 mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2014

Rathore Geetanjali S, Schaaf Christian P, Stocco Amber J

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 Dystonia
Share to Adolescent
Share to Carrier Proteins
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nerve Degeneration

Share to Neurodegenerative Diseases

Source

Identifiers

PMID: 24610255
DOI: 10.1002/mds.25868

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.PMID 24610255Read ↗

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.Semantic proximity Read ↗

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.Semantic proximity Read ↗

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.Semantic proximity Read ↗

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Semantic proximity Read ↗

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.Semantic proximity Read ↗

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated NeurodegenerationSemantic proximity Read ↗

WDR45 mutations define a novel disease entity--static encephalopathy of childhood with neurodegeneration in adulthood.Semantic proximity Read ↗

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportSemantic proximity Read ↗

Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN).Semantic proximity Read ↗

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.Semantic proximity Read ↗

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.Semantic proximity Read ↗

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegenerationSemantic proximity Read ↗

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