Congenital abnormalities of the central nervous system

Complex de novo structural variants are an underestimated cause of rare disorders.

Nature communications·2025

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Journal of medical genetics·2025

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Genome medicine·2025

Variant Creutzfeldt-Jakob disease in UK children after 27 years of active prospective surveillance.

Archives of disease in childhood·2025

snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses.

Neuron·2024

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

American journal of human genetics·2024

Epilepsy and education: a nationwide cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Journal of neurology, neurosurgery, and psychiatry·2026

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Journal of neurology, neurosurgery, and psychiatry·2026

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

Journal of neurology, neurosurgery, and psychiatry·2026

Cerebrospinal fluid haemoglobin as a monitoring biomarker for secondary brain injury after aneurysmal subarachnoid haemorrhage: prospective international multicentre validation study (HeMoVal).

Journal of neurology, neurosurgery, and psychiatry·2026

HLA-dependent association between EBNA1 antibody levels and disability progression in multiple sclerosis.

Journal of neurology, neurosurgery, and psychiatry·2026

Validity and reliability of an inertial measurement unit motion sensor as a tool for measuring cervical spine range of motion.

Expert review of medical devices·2026

Subclinical Atherosclerosis Markers in Alzheimer's and Vascular Dementia: A Cross-Sectional Comparison with Healthy Controls.

Current Alzheimer research·2026

The Levels of Neurotrophic Factors in the Rat Hippocampus in the Acute Period after Middle Cerebral Artery Occlusion Are Associated with the Hypothalamic-Pituitary-Adrenal Axis Activation.

Biochemistry. Biokhimiia·2026

Degenerative spinal stenosis may influence Normal Pressure Hydrocephalus (NPH)-related imaging characteristics.

Brain & spine·2026

Baicalin and CNS-related diseases: new insights into neuroprotective potentials based on underlying mechanisms.

Biochemistry and biophysics reports·2026

Navigating complex presentations of central nervous system tuberculosis: A two-case analysis.

Radiology case reports·2026

Related Experiment Videos

Congenital abnormalities of the central nervous system

Related Concept Videos

Complex de novo structural variants are an underestimated cause of rare disorders.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Variant Creutzfeldt-Jakob disease in UK children after 27 years of active prospective surveillance.

snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Epilepsy and education: a nationwide cohort study.

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

Cerebrospinal fluid haemoglobin as a monitoring biomarker for secondary brain injury after aneurysmal subarachnoid haemorrhage: prospective international multicentre validation study (HeMoVal).

HLA-dependent association between EBNA1 antibody levels and disability progression in multiple sclerosis.

Validity and reliability of an inertial measurement unit motion sensor as a tool for measuring cervical spine range of motion.

Subclinical Atherosclerosis Markers in Alzheimer's and Vascular Dementia: A Cross-Sectional Comparison with Healthy Controls.

The Levels of Neurotrophic Factors in the Rat Hippocampus in the Acute Period after Middle Cerebral Artery Occlusion Are Associated with the Hypothalamic-Pituitary-Adrenal Axis Activation.

Degenerative spinal stenosis may influence Normal Pressure Hydrocephalus (NPH)-related imaging characteristics.

Baicalin and CNS-related diseases: new insights into neuroprotective potentials based on underlying mechanisms.

Navigating complex presentations of central nervous system tuberculosis: A two-case analysis.

Related Experiment Videos

Congenital abnormalities of the central nervous system

Related Concept Videos

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