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

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Molecular neurobiology - 1 Aug 2017

Guo Sen, Yang Liu, Liu Huijie, Chen Wei, Li Jinchen, Yu Ping, Sun Zhong Sheng, Chen Xiang, Du Jie, Cai Tao

Abstract excerpt

Neurodegeneration with brain iron accumulation comprises a heterogeneous group of disorders characterized clinically by progressive motor dysfunction. Accurate identification of de novo and rare inherited mutations is important for determining causative genes of undiagnosed neurological diseases. In the present study, we report a unique case with cerebellar ataxia symptoms and social communication difficulties in...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Group VI Phospholipases A2

Share to Magnetic Resonance Imaging

Share to Mutation, Missense

Share to Nerve Degeneration

Share to RNA Splice Sites

Source

Identifiers

PMID: 27395053
DOI: 10.1007/s12035-016-9991-2

Variants

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

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.PMID 27395053Read ↗

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.Semantic proximity Read ↗

Clinical, Neuroimaging, and Molecular Characterization of a <em>PLA2G6</em>-Associated Neurodegeneration Phenotype in Two Siblings Carrying p.Arg645Gln and an Exon 4–7 Copy-Number Gain: A Case ReportSemantic proximity Read ↗

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.Semantic proximity Read ↗

PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.Semantic proximity Read ↗

Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.Semantic proximity Read ↗

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.Semantic proximity Read ↗

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).Semantic proximity Read ↗

Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.Semantic proximity Read ↗

The role of the PLA2G6 gene in neurodegenerative diseases.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.Semantic proximity Read ↗

Neurodegeneration associated with genetic defects in phospholipase A(2).Semantic proximity Read ↗

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