Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental diso...

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Sparad:
Bibliografiska uppgifter
Huvudupphovsman: McNeill, Alisdair
Materialtyp: Livro
Språk:Inglês
Publicerad: MDPI - Multidisciplinary Digital Publishing Institute 2019
Ämnen:
R5-920
RC346-429
bic Book Industry Communication::M Medicine
polymicrogyria
n/a
neurodegenerative disease
next generation sequencing (NGS)
inborn error of metabolism
genetic biomarker
deep learning
TUBA1A
Alzheimer’s disease (AD)
ataxia
risk prediction
p.(Arg2His)
movement science
tubulin
R2H
diagnosis
machine learning
metal storage disorders
amyotrophic lateral sclerosis (ALS)
glucocerebrosidase
Parkinsonism
cerebellar hypoplasia
Gaucher disease
disease phenotyping
tubulinopathy
Parkinson’s disease (PD)
dementia
Parkinson’s disease
Länkar:https://directory.doabooks.org/handle/20.500.12854/45005
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