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

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.

Acta neurologica Belgica - 1 Apr 2022

Sager Gunes, Turkyilmaz Ayberk, Ates Esra Arslan, Kutlubay Busra

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of conditions that are characterized by lower limb spasticity and weakness. Considering the clinical overlap between metabolic causes, genetic diseases, and autosomal recessive HSP, differentiation between these types can be difficult based solely on their clinical characteristics. This study aimed to investigate the...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Glutaredoxins
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Muscle Spasticity

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 33813722
DOI: 10.1007/s13760-021-01649-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.PMID 33813722Read ↗

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Semantic proximity Read ↗

The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.Semantic proximity Read ↗

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

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Semantic proximity Read ↗

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.Semantic proximity Read ↗

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.Semantic proximity Read ↗

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.Semantic proximity Read ↗

MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.Semantic proximity Read ↗

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

Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.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 ↗

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

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