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

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

European journal of human genetics : EJHG - 1 Nov 2017

Morais Sara, Raymond Laure, Mairey Mathilde, Coutinho Paula, Brandão Eva, Ribeiro Paula, Loureiro José Leal, Sequeiros Jorge, Brice Alexis, Alonso Isabel, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a molecular diagnosis. Analysis of one of the pioneer cohorts of 193 HSP families generated in the early 1990s in Portugal...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Loci
Share to Kinesins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Open in PubMed Open full text

Identifiers

PMID: 28832565
DOI: 10.1038/ejhg.2017.124
PMCID: PMC5643959

Genes

SPAST
SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.PMID 28832565Read ↗

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudySemantic proximity Read ↗

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.Semantic proximity Read ↗

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Semantic proximity Read ↗

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read ↗

Genetic Landscape of Hereditary Spastic Paraplegia in Iran: Insights from Novel variants and Genotype-Phenotype CorrelationsSemantic proximity Read ↗

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.Semantic proximity Read ↗

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Semantic proximity Read ↗

New genetic causes for complex hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.Semantic proximity Read ↗

Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.Semantic proximity Read ↗

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.Semantic proximity Read ↗

Hereditary spastic paraplegias: one disease for many genes, and still counting.Semantic proximity Read ↗

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