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

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Neurogenetics - 1 Aug 2012

Dufke Claudia, Schlipf Nina, Schüle Rebecca, Bonin Michael, Auer-Grumbach Michaela, Stevanin Giovanni, Depienne Christel, Kassubek Jan, Klebe Stephan, Klimpe Sven, Klopstock Thomas, Otto Susanne, Poths Sven, Seibel Andrea, Stolze Henning, Gal Andreas, Schöls Ludger, Bauer Peter

Abstract excerpt

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurological disorders. Insidiously progressive spastic weakness of the lower extremities is the common criterion in all forms described. Clinically, HSP is differentiated into pure (uncomplicated) and complex (complicated) forms. While pure HSP is predominantly characterized by signs and symptoms of pyramidal tract dysfunction, additional...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Mutation, Missense

Share to Oligonucleotide Array Sequence Analysis

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 22552817
DOI: 10.1007/s10048-012-0329-6

Genes

SPAST
ATL1
BSCL2
NIPA1
HSPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.PMID 22552817Read ↗

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Semantic proximity Read ↗

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Semantic proximity Read ↗

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.Semantic proximity Read ↗

Genetic landscape of hereditary spastic paraplegias in the Korean population.Semantic proximity Read ↗

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

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

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.Semantic proximity Read ↗

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.Semantic proximity Read ↗

The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.Semantic proximity Read ↗

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

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Semantic proximity Read ↗

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Semantic proximity Read ↗

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