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 SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.

The International journal of neuroscience - 1 Feb 2018

Du Juan, Hu Ya-Cen, Tang Bei-Sha, Jiang Hong, Shen Lu

Abstract excerpt

AIM OF THE STUDY: To investigate the mutation frequency of SPG11, SPG15, SPG5 and SPG7 in China. MATERIALS AND METHODS: We have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated Chinese ARHSP families. RESULTS: SPG11 mutations were found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes. Among the SPG11...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to China
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Share to White Matter

Share to Young Adult

Source

Identifiers

PMID: 28933964
DOI: 10.1080/00207454.2017.1378878

Genes

SPG11
SPG7
ZFYVE26

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.PMID 28933964Read ↗

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.Semantic proximity Read ↗

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportSemantic proximity Read ↗

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11Semantic proximity Read ↗

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.Semantic proximity Read ↗

Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.Semantic proximity Read ↗

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegiaSemantic proximity Read ↗

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.Semantic proximity Read ↗

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