De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107137
Abstract: Objective To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes. Methods Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated… read more here.
Keywords: missense variants; lmbrd2 associated; novo missense; developmental motor ... See more keywords
Inhibitory Synaptic Influences on Developmental Motor Disorders
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DOI: 10.3390/ijms24086962
Abstract: During development, GABA and glycine play major trophic and synaptic roles in the establishment of the neuromotor system. In this review, we summarise the formation, function and maturation of GABAergic and glycinergic synapses within neuromotor… read more here.
Keywords: influences developmental; rett syndrome; synaptic influences; inhibitory synaptic ... See more keywords
Identifying Developmental Motor Difficulties: A Review of Tests to Assess Motor Coordination in Children
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Functional Morphology and Kinesiology"
DOI: 10.3390/jfmk5010016
Abstract: The latest guidelines recommend early identification of children with motor impairments using a standardized norm-referenced test. Motor coordination difficulties in developmental age have been studied extensively over recent years, with experimental literature on developmental coordination… read more here.
Keywords: motor difficulties; coordination; developmental motor; motor coordination ... See more keywords