“…Mutations and duplication events in AT‐1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Fragile X syndrome (FXS), the most common form of inherited intellectual disability (ID) and a leading cause of autism, results from the loss of expression of the Fmr1 gene which encodes the RNA-binding protein Fragile X Mental Retardation Protein (FMRP). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Ten countries (91% of the sample) have registered one or more of the second-generation, direct-acting antiviral medications (DAA) for potential interferon-free treatment. However, intellectual property issues and prices limit access to these drugs. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Secondly, cryptic complexity and a chromothripsis rearrangement was identified in a t(6;7;8;12) carrier with intellectual disability. Two translocations and a heterozygous deletion disrupted SOX5; a dominant nervous system development gene previously reported in similar patients. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: The sample included 68 LPI (45 males and 23 females) aged from 2 to 16.3 years (mean age 7,5 years), who were affected by one or more neurodevelopmental disorder, including Language Disorder, Attention Deficit Hyperactivity Disorder, Specific Learning Disorder, Developmental Coordination Disorder, Intellectual Disability and Autism Spectrum Disorder. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Using Stephanie Lee Mudge’s conceptualisation (Soc Econ Rev 6:703–3, 2008) we have analysed how the political, bureaucratic and intellectual domains of neoliberalism have intersected and redefined the role of state and commercialised health services leading to inequities. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Involvement of authors of the 8th edition (AT8) was restricted due to financial and intellectual conflicts of interest. However, the first author of AT8 subsequently wrote a “Getting Started Kit,” widely distributed to help Canadian hospitals develop VTE protocols. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Among all children, 93 (51%) had epilepsy, 109 (59%) intellectual disability, 42 (23%) severe vision and 10 (5%) hearing impairments while 84 (45%) children had severe speech impairments. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The most common topic was intellectual property rights (64%), while only 23% looked at publication rights and 19% for inappropriately broad confidentiality provisions. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…While research has broadly considered the wide-ranging intellectual, social, personal, and physical benefits of active musical participation across the lifespan, there is little research that explores how music educators work to promote participant investment inside school and beyond. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Neurological symptoms include epilepsy, intellectual disability, and autism. TSC is caused by a loss-of-function mutation in the TSC1 or TSC2 gene. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Most patients with MPS VII have intellectual disability and severely delayed speech development, usually associated with hearing impairment. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic glutamate receptor subtype-5 antagonist, has shown positive neuronal and behavioral effects in preclinical studies, but failed to demonstrate any behavioral benefits in two 12-week, randomized, placebo-controlled, double-blind, phase IIb studies in adults and adolescents with FXS. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: Of the total seven patients (M = 4, F = 3; age: 19–61 years) identified to have PNH, six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obsessive compulsive disorder. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Mice lacking a functional Biogenesis of Lysosome-related Organelles Complex 1 (BLOC-1), such as those of the pallid line, display cognitive and behavioural impairments reminiscent of those presented by individuals with intellectual and developmental disabilities. Although disturbances in the sleep/wake cycle are commonly lamented by these individuals, the underlying mechanisms, including the possible role of the circadian timing system, are still unknown. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The review focused on three client groups receiving long-term care: physically or mentally frail elderly, people with mental health problems and people with physical or intellectual disabilities. Included studies concern clients receiving inpatient or outpatient care and care professionals who provided recurring physical and supporting care for a long period of time. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Methods: DNA was extracted from dried blood spots of 151 individuals with intellectual disability or autism spectrum disorder, whose FMR1 repeat genotypes are known. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…To respond to the HIV/AIDS crisis of the late nineties and to increase access to antiretroviral treatment, certain flexibilities contained in the Agreement on Trade Related Aspects of Intellectual Property Rights (TRIPS flexibilities) have been clarified and in some respects strengthened at the global level. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Fragile X associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder seen more often in older men. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso