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

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ISBN: 9783039216109 / 9783039216116 Year: Pages: 94 DOI: 10.3390/books978-3-03921-611-6 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-12-09 11:49:16
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Abstract

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 disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

The Molecular and Cellular Basis for Parkinson's Disease

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ISBN: 9783039215485 / 9783039215492 Year: Pages: 230 DOI: 10.3390/books978-3-03921-549-2 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-12-09 11:49:15
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Abstract

The focus on dopamine-sensitive motor symptoms, in association with the improvement of motor complications in the heterogeneous disease entity Parkinson's disease, has led to a certain standstill in research. This Special Issue provides new concepts and new ideas on the pathogenesis, genetics, and clinical maintenance of Parkinson's disease and related disorders. Not only new experimental findings, but also clinical outcomes, case series, and research on alternative, non-pharmacological therapies are included. The objective is to bridge the currently increasing gap between experimental and clinical research on Parkinson's disease and related disorders.

Keywords

epigenetics --- Parkinson’s disease --- brain --- DNA methylation --- Parkinson’s disease --- fatty acid ?-oxidation --- long-chain acylcarnitine --- Parkinson’s disease --- fatty acyls --- glycerolipids --- glycerophospholipids --- sphingolipids --- sterol lipids --- lipoproteins --- ?-synuclein-mediated pathology --- disease-modifying effects --- neuroprotection --- autophagy --- cysteinyl-dopamine --- hypochlorite --- oxidative stress --- Parkinson’s disease --- redox cycling --- Parkinson’s disease --- brain iron --- motor dysfunction --- neurometabolites --- magnetic resonance imaging --- magnetic resonance spectroscopy --- GABA --- spectroscopy --- Parkinson’s disease --- neuroinflammation --- alpha-Synuclein --- immunotherapy --- mesenchymal stem cells --- secretome --- exosomes --- Parkinson’s disease --- microRNAs --- Parkinson disease --- multiprofessional therapy --- inpatient treatment --- multimodal complex treatment --- caffeic acid --- chlorogenic acid --- rotenone --- Parkinson’s disease --- neuroprotection --- dopaminergic neuron --- myenteric plexus --- enteric glial cell --- metallothionein --- Parkinson’s disease --- microbiota --- molecular mimicry --- microbiome --- alpha-synuclein --- curli --- gut-brain axis --- neurodegeneration --- glucocerebrosidase --- Parkinson’s disease --- Gaucher’s disease --- Lewy Body Dementia --- REM sleep behavior disorders --- [123I]FP-CIT-SPECT --- DAT --- nigral cells --- Parkinson’s disease --- parkinsonisms --- cell line --- differentiation --- HOG --- immature oligodendrocyte --- Krabbe’s disease --- oligodendrocyte --- mature oligodendrocyte --- MO3.13 --- myelin --- multiple sclerosis --- schizophrenia --- SH-SY5Y

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