专题:Genetics and Neurodevelopmental Disorders

This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.
最新文献
Developmental convergence and divergence in human stem cell models of autism

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Altered Structural Plasticity Mediated by mGlu and NMDA Receptors and Impaired Cognition in a Genetic ASD Model (Shank3 +/− Mice)

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Imaging Metabotropic Glutamate Receptor 5 and Excitatory Neural Activity in Autism

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

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Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders

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Age-Dependent Process Governs Executive Function Disability in Autistic Children

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Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders

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Cancer diagnoses, referrals, and survival in people with a learning disability in the UK: a population-based, matched cohort study

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Meta‐Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome

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The role of machine learning in autism spectrum disorder assessment and management

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近5年高被引文献
Global prevalence of autism: A systematic review update

review Full Text OpenAlex 2600 FWCI288.2957

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020

article Full Text OpenAlex 2328 FWCI414.2773

A saturated map of common genetic variants associated with human height

article Full Text OpenAlex 841 FWCI150.9117

The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis

review Full Text OpenAlex 452 FWCI49.1003

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

article Full Text OpenAlex 424 FWCI46.4993

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

article Full Text OpenAlex 416 FWCI57.0062

Universal DNA methylation age across mammalian tissues

article Full Text OpenAlex 352 FWCI54.5278

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

article Full Text OpenAlex 322 FWCI43.4203

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

article Full Text OpenAlex 272 FWCI53.9771

Epigenetic clock: A promising biomarker and practical tool in aging

review Full Text OpenAlex 270 FWCI22.2281