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  1. 10441
    “…Published studies further suggest that decreased spinules are associated with impaired synaptic plasticity and intellectual disability, while increased spinules are linked to hyperexcitability and neurodegenerative diseases. …”
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    Dendritic spinule-mediated structural synaptic plasticity: Implications for development, aging, and psychiatric disease
  2. 10442
    “…One such gene is PACS1, which encodes the multi-functional trafficking protein PACS1 (or PACS-1); a single recurrent de novo missense mutation, c607C>T (PACS1(R203W)), causes developmental delay and intellectual disability (ID) (5,6). The processes by which PACS1(R203W) causes PACS1 syndrome are unknown, and there is no curative treatment. …”
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    RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice
  3. 10443
    “…Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and behavioral differences. …”
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    Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
  4. 10444
    “…Trm10 is conserved throughout Eukarya and Archaea, and mutations in the human gene (TRMT10A) have been linked to neurological disorders such as microcephaly and intellectual disability, as well as defects in glucose metabolism. …”
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    tRNA m(1)G9 modification depends on substrate-specific RNA conformational changes induced by the methyltransferase Trm10
  5. 10445
    “…Most of the PSN were diagnosed with autistic spectrum disorder (ASD, 61.8%), had a wide spectrum of intellectual deficits, and required constant support for their basic needs. …”
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    Preliminary Assessment of the Quality of Life and Daily Burden of Caregivers of Persons with Special Needs: A Questionnaire-Based, Cross-Sectional Survey
  6. 10446
    “…Non-MD patients primarily include those with severe motor and intellectual disabilities. The median age of the patients was 32 years (range 12–64 years). …”
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    Immunogenicity of SARS-CoV-2 mRNA intramuscular vaccination in patients with muscular disorders
  7. 10447
    “…INTRODUCTION: Using digital addiction as an umbrella term to cover any type of addictions to digital technologies such as the internet, smartphones, social media, or video games, the current study aimed to reveal the intellectual structure and evolution of research addressing digital addiction-depression relationship. …”
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    A comprehensive review on emerging trends in the dynamic evolution of digital addiction and depression
  8. 10448
    “…Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. …”
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    A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation
  9. 10449
    “…Clinical features of AS, which include developmental delays, intellectual disability, microcephaly, and seizures, are primarily due to the deficient expression or function of the maternally inherited UBE3A allele. …”
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    Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome
  10. 10450
    “…Dysfunction of Na(V)1.6 has been linked to epileptic encephalopathy, intellectual disability and movement disorders. Here we present cryo-EM structures of human Na(V)1.6/β1/β2 alone and complexed with a guanidinium neurotoxin 4,9-anhydro-tetrodotoxin (4,9-ah-TTX), revealing molecular mechanism of Na(V)1.6 inhibition by the blocker. …”
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    Structure of human Na(V)1.6 channel reveals Na(+) selectivity and pore blockade by 4,9-anhydro-tetrodotoxin
  11. 10451
    “…The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual disability (ID), brachydactyly type E, short stature, obesity, hypotonia in infancy, and abnormal behavior with autism spectrum disorder. …”
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    Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
  12. 10452
    “…In addition to the intellectual and social organisation of the meadow, this investigation reveals the conceptual structure of the area. …”
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    Apple Leave Disease Detection Using Collaborative ML/DL and Artificial Intelligence Methods: Scientometric Analysis
  13. 10453
    “…Results: We observed that among the 55 patients treated at CAMHS between 1995 and 2015 for ADHD and subsequently at the AMHS, none presented a diagnosis of ADHD; instead, they were treated for Intellectual Dysfunction (33%), Borderline Personality Disorder (15%) and Anxiety Disorders (9%), and two individuals were also diagnosed with comorbid substance/alcohol abuse (4%). …”
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    ADHD Follow-Up in Adulthood among Subjects Treated for the Disorder in a Child and Adolescent Mental Health Service from 1995 to 2015
  14. 10454
    “…Individuals with Angelman syndrome (AS) present with severe intellectual disability alongside a social phenotype characterised by social communication difficulties and an increased drive for social engagement. …”
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    Social attention and social-emotional modulation of attention in Angelman syndrome: an eye-tracking study
  15. 10455
    “…Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and atypical behaviors. AS results from loss of expression of the E3 ubiquitin-protein ligase UBE3A from the maternal allele in neurons. …”
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    Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome
  16. 10456
    “…BACKGROUND: Postoperative pain cannot be measured accurately among many children with intellectual and developmental disabilities, resulting in underrecognition or delay in recognition of pain. …”
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    Validation of the Critical-Care Pain Observation Tool (CPOT) in pediatric patients undergoing orthopedic surgery
  17. 10457
    “…Results: Compared to treatment as usual, minimal or no treatment, comprehensive ABA-based interventions showed medium effects for intellectual functioning (standardized mean difference SMD = 0.51, 95% CI [0.09; 0.92]) and adaptive behavior (SMD = 0.37, 95% CI [0.03; 0.70]). …”
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    Comprehensive ABA-based interventions in the treatment of children with autism spectrum disorder – a meta-analysis
  18. 10458
    por Lee, Jack T.
    Publicado 2023
    “…I analyze these spaces by using the concepts of intellectual captivity and decolonization from Syed Hussein Alatas and Kuan-Hsing Chen. …”
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    Romanticizing decolonization and Asian epistemology: reflections on identity and space
  19. 10459
    “…Fragile X syndrome (FXS) is the most common inherited intellectual disability. FXS is caused by a trinucleotide repeat expansion in the 5′ untranslated region of the FMR1 gene, which leads to gene methylation, transcriptional silencing, and lack of expression of Fragile X Messenger Riboprotein (FMRP). …”
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    A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome
  20. 10460
    “…INTRODUCTION: Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability. Mutations of FMR1 are also associated with reproductive disorders, such as early cessation of reproductive function in females. …”
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    Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation
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