Results 151 to 160 of about 1,859,984 (354)

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe   +19 more
wiley   +1 more source

A Social Controversy: Autism Spectrum Disorder\u27s Correlation to the Measles-Mumps-Rubella Vaccination [PDF]

open access: yes, 2012
A 1998 research study lead by Dr. Andrew Wakefield linked the measles-mumps-rubella (MMR) vaccination as a probable cause to autism spectrum disorder.
Frye, Lindsay A
core   +1 more source

State Regulation in Autistic Spectrum: A Finnish-Dutch Approach [PDF]

open access: bronze, 2001
Jacob van der Meere   +2 more
openalex   +1 more source

Hub and Spokes in Intellectual Disability Mental Health Support

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The distribution of specialist health services is usually uneven by location due to limited resources, which is a problem for people with complex needs. In this context, how can a hub and spoke model offer appropriate services for people with intellectual disability and mental health needs?
Christiane Purcal   +4 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Muhammad Othman   +2 more
wiley   +1 more source

A potential strategy for improving offspring behavior in maternal immune activation: Amantadine‐mediated suppression of neuroinflammation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Amantadine (AMA) regulates neurocyte apoptosis and inhibits neurocyte inflammation to prevent maternal immune activation (MIA) from affecting offspring behavior. Abstract Background Maternal viral infection during pregnancy can lead to maternal immune activation (MIA), increasing the risk of neurodevelopmental disorders in offspring.
Jianfei Wu   +8 more
wiley   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

open access: yesAnnals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker   +79 more
wiley   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias   +23 more
wiley   +1 more source

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