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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Genetics in Medicine, 2023 PURPOSE LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but has not been clearly linked to neurodevelopmental disorders (NDD) to date.
Chloe Quelin +2 more
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Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
European Journal of Medical Genetics, 2021 PPP2R5D-related neurodevelopmental disorder (NDD) is a rare autosomal-dominant disease with developmental delay and mild to severe intellectual disability.
Katalin L M L Hetzelt +2 more
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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder [PDF]
Genetics in MedicinePURPOSE: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development.
Soo-Mi Park +2 more
exaly +7 more sources
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Microglia and Neurodevelopmental Disorders
Annual Review of Neuroscience, 2022Mounting evidence indicates that microglia, which are the resident immune cells of the brain, play critical roles in a diverse array of neurodevelopmental processes required for proper brain maturation and function. This evidence has ultimately led to growing speculation that microglial dysfunction may play a role in neurodevelopmental disorder (NDD ...
John R, Lukens, Ukpong B, Eyo
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Autophagy in Neurodevelopmental Disorders
2020Neurodevelopmental diseases are a class of neurodevelopmental disorders characterized by cognitive impairment and behavioral abnormalities and are mainly manifested as developmental disorders of the brain and nervous system. The pathological mechanism is not fully understood and may be related to hereditary or environmental factors.
Meihong, Lv, Quanhong, Ma
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Nutrition and Neurodevelopmental Disorders
Nutrition and Health, 1993Since the 1960s the structural requirements for the growth, development and function of the brain have become better understood due to the recognition of the prodigious energy needs for brain development and its structural requirements for lipids. The most vulnerable period of neural development is during embryonic and fetal growth ...
M A, Crawford +5 more
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Treatment of Neurodevelopmental Disorders
2017Neurogenetic developmental conditions (NDCs) represent a heterogeneous group of rare inherited disorders with neurological manifestation during development. Treatments for these conditions have largely been supportive, however, an increasing number of targeted treatments are emerging which target the underlying physiology and offer great potential. Our
van Karnebeek, Clara +2 more
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Neurodevelopmental Disorders and Diseases
Nutrition and Health, 1993Research on cerebral palsy—and related neurodevelopmental disorders—should ultimately aim at primary prevention, and, following examination of existing knowledge of causes and mechanisms of origin, a comprehensive and strategic approach to causes and mechanisms is needed.
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The HNRNPs and neurodevelopmental disorders
Current Opinion in Genetics & DevelopmentThe HNRNP gene family has long been investigated in neurodegenerative disorders and cancer. Over the last several years, multiple members of the gene family have been associated with neurodevelopmental disorders. To date, there are nine well-established HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs), at least three that are actively being ...
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