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 Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Pediatric neurology - 1 Mar 2024

Kilic Mehmet Akif, Yildiz Edibe Pembegul, Deniz Adnan, Coskun Orhan, Kurekci Fulya, Avci Ridvan, Genc Hulya Maras, Yesil Gozde, Akbas Sinan, Yesilyurt Ahmet, Kara Bulent

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. METHODS: We reviewed the charts of subjects with genetically confirmed childhood-onset HSP. The...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Kinesins

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 38301322
DOI: 10.1016/j.pediatrneurol.2024.01.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.PMID 38301322Read ↗

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.Semantic proximity Read ↗

Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.Semantic proximity Read ↗

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.Semantic proximity Read ↗

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Semantic proximity Read ↗

Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic.Semantic proximity Read ↗

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

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsSemantic proximity Read ↗

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

Genetics of hereditary spastic paraplegias.Semantic proximity Read ↗

Clinical and genetic update of hereditary spastic paraparesis.Semantic proximity Read ↗

Clinical and genetic study of hereditary spastic paraplegia in CanadaSemantic proximity Read ↗

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive OverviewSemantic proximity Read ↗

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