Latest Research in Neurological diseases and metabolism
12 research papers · 2026 median publication year
Top Research Topics in Neurological diseases and metabolism
- Genomics and Rare Diseases — 6 papers
- Neurological diseases and metabolism — 2 papers
- Genetic Neurodegenerative Diseases — 1 papers
- Genetics and Neurodevelopmental Disorders — 1 papers
- T-cell and B-cell Immunology — 1 papers
- Genetic Syndromes and Imprinting — 1 papers
Highest-Cited Papers
- Bridging epidemiological gaps in rare diseases: Overcoming systemic and socio-economic challenges through integrated solutions
- Spectrum of Hereditary Ataxia in Omani Children
- Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability
- Prevalence and spectrum of MECP2 variants in patients clinically diagnosed with cerebral palsy
- Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
- ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children
- Inheritance-dependent genotype–phenotype architecture in DEAF1-associated neurodevelopmental disorders: five unrelated patients with de novo DEAF1 variants and an updated synthesis of 67 individuals
- A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family
- Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants
- Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project
- A Candidate MEST Splice-Site Variant in a Patient with Silver–Russell Syndrome-like Phenotype: First Report and Literature Review