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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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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
mucopolysaccharidosis IIIB
quantitative proteomics NAGLU lysosomes Gaucher disease bone involvement enzyme replacement therapy substrate reduction therapy Osteoimmunology RANK/RANKL Osteopontin MIP-1β mucolipidosis II sortilin TGF-beta cathepsin D Fabry disease alpha-galactosidase A endocytosis lysosome IGF2R/M6P clathrin chloroquine lysosomal diseases precision medicine pharmacological chaperones gene therapy Pompe disease lysosomal targeting autophagy muscle satellite cells rhGAA glycogen lysosomal α-glucosidase GAA biomarker Gaucher Disease Wnt/β-catenin Dkk1 Wnt3a iPSC neuronopathy Krabbe disease Twitcher mouse psychosine visual system visual cortex astrogliosis mucopolysaccharidosis type I Hurler syndrome hematopoietic stem cell transplantations animal models experimental therapies axon guidance lysosomal storage disorders neuronal circuit α-galactosidase A A4GALT globotriaosylceramide (Gb3) globotriaosyl-sphingosine (lysoGb3) pharmacological chaperone therapy exosomes endocytic pathways neurodegenerative disease Parkinson disease lysosomal storage disorder viral vectors newborn screening variant interpretation second tier test tandem mass spectrometry lyso-Gb3 dried blood spot GLA gene globotriaosylsphingosine biomarkers |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
Moro Enrico
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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