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Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill
| Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (94 p.) |
| Disciplina | 612.8 |
| Soggetto topico | Neurogenetics |
| Soggetto non controllato |
polymicrogyria
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 |
| ISBN | 3-03921-611-2 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Diagnosis of Neurogenetic Disorders |
| Record Nr. | UNINA-9910367751303321 |
| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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The Molecular and Cellular Basis for Parkinson's Disease
| The Molecular and Cellular Basis for Parkinson's Disease |
| Autore | Müller Thomas |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (230 p.) |
| Soggetto non controllato |
microRNAs
disease-modifying effects SH-SY5Y inpatient treatment sphingolipids neurodegeneration magnetic resonance spectroscopy MO3.13 schizophrenia epigenetics long-chain acylcarnitine molecular mimicry curli multimodal complex treatment chlorogenic acid glycerophospholipids caffeic acid lipoproteins myenteric plexus neurometabolites HOG immature oligodendrocyte autophagy oligodendrocyte hypochlorite alpha-synuclein microbiome glucocerebrosidase Lewy Body Dementia brain iron mesenchymal stem cells fatty acid ?-oxidation GABA enteric glial cell gut-brain axis microbiota REM sleep behavior disorders redox cycling magnetic resonance imaging differentiation ?-synuclein-mediated pathology Parkinson disease Gaucher’s disease metallothionein [123I]FP-CIT-SPECT dopaminergic neuron mature oligodendrocyte glycerolipids spectroscopy neuroinflammation exosomes immunotherapy DNA methylation sterol lipids nigral cells cell line cysteinyl-dopamine myelin parkinsonisms multiple sclerosis rotenone brain fatty acyls Krabbe’s disease neuroprotection DAT motor dysfunction secretome multiprofessional therapy Parkinson’s disease oxidative stress alpha-Synuclein |
| ISBN | 3-03921-549-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367753003321 |
Müller Thomas
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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