BMC Med. Genet.
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.
Caffarelli C, Gonnelli S, Pitinca MDT, Camarri S, Al Refaie A, Hayek J, Nuti R
More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The ...
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Source: PubMed
Dev Med Child Neurol 2020 Jan 27
Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon.
Kaufmann WE
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Source: PubMed
Curr Dev Disord Rep
Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?
Lang S, Bartl-Pokorny KD, Pokorny FB, Garrido D, Mani N, Fox-Boyer AV, Zhang D, Marschik PB
To summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), su ...
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Source: PubMed
Hum. Genet. 2020 Jan 24
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y
CHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutati ...
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Source: PubMed
Cell. Mol. Life Sci. 2020 Jan 23
The effect of fornix deep brain stimulation in brain diseases.
Liu H, Temel Y, Boonstra J, Hescham S
Deep brain stimulation is used to alleviate symptoms of neurological and psychiatric disorders including Parkinson's disease, epilepsy, and obsessive- ...
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Source: PubMed
