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

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Molecular neurobiology - 1 Aug 2024

Ashaat Engy A, Ahmed Hoda A, Elaraby Nesma M, Fayez Alaaeldin, Metwally Ammal M, Mekkawy Mona K, Hussen Dalia Farouk, Ashaat Neveen A, Elhossini Rasha M, ElAwady Heba Ahmed, Abdelgawad Randa H A, Gammal Mona El, Al Kersh Mohamed Ahmed, Saleh Dina Amin

Abstract excerpt

Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Child, Preschool

Share to Exome Sequencing

Share to Infant

Share to Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 38153683
DOI: 10.1007/s12035-023-03866-y
PMCID: PMC11249754

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

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.PMID 38153683Read ↗

Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar AtrophySemantic proximity Read ↗

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.Semantic proximity Read ↗

A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?Semantic proximity Read ↗

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.Semantic proximity Read ↗

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.Semantic proximity Read ↗

Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.Semantic proximity Read ↗

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Semantic proximity Read ↗

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patientsSemantic proximity Read ↗

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.Semantic proximity Read ↗

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.Semantic proximity Read ↗

Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement DisordersSemantic proximity Read ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

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