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

Recurrent de novo c.316G>A mutation in NIPA1 hotspot.

Journal of the neurological sciences - 15 Dec 2013

Hedera Peter

Abstract excerpt

Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia. Allelic heterogeneity of known NIPA1 mutations is quite limited and the most common mutation is c.316G>A resulting in p.G106R protein change. Here we report the first direct evidence of de novo c.316G>A mutatio...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Membrane Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 24075313
DOI: 10.1016/j.jns.2013.09.015

Genes

NIPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24075313-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent de novo c.316G>A mutation in NIPA1 hotspot.PMID 24075313Read ↗

Distinct novel mutations affecting the same base in the <i>NIPA1</i> gene cause autosomal dominant hereditary spastic paraplegia in two Chinese familiesSemantic proximity Read ↗

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.Semantic proximity Read ↗

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.Semantic proximity Read ↗

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.Semantic proximity Read ↗

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).Semantic proximity Read ↗

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.Semantic proximity Read ↗

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.Semantic proximity Read ↗

NIPA1mutation in complex hereditary spastic paraplegia with epilepsySemantic proximity Read ↗

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.Semantic proximity Read ↗

A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.Semantic proximity Read ↗

A novel mutation in K6b in pachyonychia congenita type 2.Semantic proximity Read ↗

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