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

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

Journal of the neurological sciences - 15 Jul 2017

Travaglini Lorena, Bellacchio Emanuele, Aiello Chiara, Pro Stefano, Bertini Enrico, Nicita Francesco

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 Adolescent
Share to Calpain
Share to Family
Share to Models, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Sequence Alignment

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 28566166
DOI: 10.1016/j.jns.2017.05.014

Genes

CAPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.PMID 28566166Read ↗

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.Semantic proximity Read ↗

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.Semantic proximity Read ↗

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Semantic proximity Read ↗

CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.Semantic proximity Read ↗

Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 GenesSemantic proximity Read ↗

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.Semantic proximity Read ↗

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.Semantic proximity Read ↗

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.Semantic proximity Read ↗

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Semantic proximity Read ↗

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

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.Semantic proximity Read ↗

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