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  1. 10621
    “…Although Rett syndrome (RTT) represents one of the most frequent forms of severe intellectual disability in females worldwide, we still have an inadequate knowledge of the many roles played by MeCP2 (whose mutations are responsible for most cases of RTT) and their relevance for RTT pathobiology. …”
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    MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?
  2. 10622
    “…Questionnaire items covered the following: age, sex, household, medical history, instrumental activities of daily living, intellectual activity, social role, Motor Fitness Scale, falls experienced during the past year, Dietary Variety Score, frequency of going outdoors, cognitive impairment, and depressive status. …”
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    Risk factors of functional disability among community-dwelling elderly people by household in Japan: a prospective cohort study
  3. 10623
    por Baker, Phillip, Kay, Adrian, Walls, Helen
    Publicado 2014
    “…We find that trade liberalization can facilitate increased trade in goods, services and investments in ways that can promote risk commodity consumption, as well as constrain the available resources and capacities of governments to enact policies and programmes to mitigate such consumption. Intellectual property provisions of trade agreements may also constrain access to NCD medicines. …”
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    Trade and investment liberalization and Asia’s noncommunicable disease epidemic: a synthesis of data and existing literature
  4. 10624
    “…METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. …”
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    The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong
  5. 10625
    “…The synapse proteome is physically organized into multiprotein complexes and polygenic mutations converge on postsynaptic complexes in schizophrenia, autism and intellectual disability. Directly characterising human synapses and their multiprotein complexes from post-mortem tissue is essential to understanding disease mechanisms. …”
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    Human post-mortem synapse proteome integrity screening for proteomic studies of postsynaptic complexes
  6. 10626
    “…All patients had developed various comordibities, including prominent veins (n = 12), cardiac malformations (n = 12), intellectual disability (n = 7), and myopathic syndrome with recurrent painful cramps (n = 1). …”
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    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
  7. 10627
    “…Other than moderate or severe intellectual disability, no additional exclusion criteria were applied in order that the cohort reflected the typical cross section of patients with ADHD. …”
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    Electroencephalography as a clinical tool for diagnosing and monitoring attention deficit hyperactivity disorder: a cross-sectional study
  8. 10628
    “…People with cerebral palsy may also have problems with speech, vision and hearing, intellectual difficulties and epilepsy. Health and therapy services are frequently required throughout life, and this care should be effective and evidence informed; however, accessing and adopting new research findings into day-to-day clinical practice is often delayed. …”
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    Improving allied health professionals’ research implementation behaviours for children with cerebral palsy: protocol for a before-after study
  9. 10629
    “…CONCLUSION: The first Hungarian case of 4q21 deletion adds to the phenotypic spectrum of this novel microdeletion syndrome and underlines the importance of array CGH to uncover the heterogeneous causes of intellectual disability.…”
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    Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
  10. 10630
    “…Reproduction and confirmation of data, 7. Update of intellectual property (IP) laws to facilitate repurposing and combination therapy (low priority), 8. …”
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    Proceedings of the 2013 CINP Summit: Innovative Partnerships to Accelerate CNS Drug Discovery for Improved Patient Care
  11. 10631
    “…These risks have led us to develop a controlled access policy, which safeguards the rights of patients entered in our trials, guards the intellectual property rights of the original researchers who designed the trial and collected the data, provides a barrier against unnecessary duplication, and ensures that researchers have the necessary resources and skills to analyse the data. …”
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    Sharing data from clinical trials: the rationale for a controlled access approach
  12. 10632
    “…BACKGROUND: Communication difficulties are common in cerebral palsy (CP) and are frequently associated with motor, intellectual and sensory impairments. Speech and language therapy research comprises single-case experimental design and small group studies, limiting evidence-based intervention and possibly exacerbating variation in practice. …”
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    Assessment and management of the communication difficulties of children with cerebral palsy: a UK survey of SLT practice
  13. 10633
    “…Fragile X is the most common cause of inherited intellectual disability and a leading cause of autism. …”
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    Functional and structural deficits at accumbens synapses in a mouse model of Fragile X
  14. 10634
    “…The questionnaire consisted of two sections aimed at capturing the participants’ demographic data, the participants’ opinions regarding their support for the family’s presence during resuscitation, and the multiple potential factors affecting the participants’ attitudes, including health beliefs, triggers that could facilitate the procedure, self-efficacy, intellectual norms, and perceived behavioral control. …”
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    An Analytical Comparison of the Opinions of Physicians Working in Emergency and Trauma Surgery Departments at Tabriz and Vienna Medical Universities Regarding Family Presence during Resuscitation
  15. 10635
    “…People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer’s disease (AD). …”
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    Hippocampal glutamate-glutamine (Glx) in adults with Down syndrome: a preliminary study using in vivo proton magnetic resonance spectroscopy ((1)H MRS)
  16. 10636
    “…BACKGROUND: Snyder-Robinson Syndrome (SRS) is an X-linked intellectual disability disorder also characterized by osteoporosis, scoliosis, and dysmorphic facial features. …”
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    Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
  17. 10637
    “…Any major comorbidities and intellectual disabilities were excluded through applying K-SADS-PL and Raven’s IQ test for all the patients and the healthy participants. …”
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    Characteristics of Alpha Band Frequency in Adolescents with Bipolar II Disorder: A Resting-State QEEG Study
  18. 10638
    “…BACKGROUND: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. …”
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    Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
  19. 10639
    “…METHODS: Clinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. …”
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    De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
  20. 10640
    “…To investigate the utility of a multi-disease NGS based genetic test, we designed a custom sequencing assay targeting over thirty disease-associated areas including cardiac disorders, intellectual disabilities, hearing loss, collagenopathies, muscular dystrophy, Ashkenazi Jewish genetic disorders, and complex Mendelian disorders. …”
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    Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants
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