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Nephrotic Syndrome in Pediatric Patients
| Nephrotic Syndrome in Pediatric Patients |
| Autore | Frederick Jeffrey Kaskel |
| Pubbl/distr/stampa | Frontiers Media SA, 2017 |
| Descrizione fisica | 1 electronic resource (85 p.) |
| Collana | Frontiers Research Topics |
| Soggetto non controllato |
edema
podocytes proteinuria FSGS slit diaphragm minimal change disease APOL1 prednisone nephrotic syndrome calcineurin inhibitors |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910261138603321 |
Frederick Jeffrey Kaskel
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| Frontiers Media SA, 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
| Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| Autore | Duddy William |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (318 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
LMNA
Emery-Dreifuss muscular dystrophy Omics ALS MND ALS variants genotype-phenotype ALS genes FSHD DUX4 transcription muscle regulation spinal muscular atrophy adult patients disease heterogeneity Nusinersen disease modifiers functional outcomes biomarkers epigenetic changes -omics approaches oxidative stress mitochondria dysfunction axonal transport autophagy endocytosis secretion excitotoxicity RNA metabolism Duchenne muscular dystrophy (DMD) exon-skipping therapies next-generation sequencing (NGS) Sanger sequencing multiplex ligation probe amplification (MLPA) multiplex polymerase chain reaction (PCR) comparative genomic hybridization array (CGH) viltolarsen eteplirsen golodirsen rheumatoid arthritis SNP DMARD methotrexate pharmacogenomics Duchenne muscular dystrophy pharmacodynamic biomarkers prednisone deflazacort glucocorticoids corticosteroids safety neuromuscular diseases translational research disease models precision medicine miRNA proteomics calprotectin dystrophy Becker muscular dystrophy dystrophinopathy genotype-phenotype correlations Canadian Neuromuscular Disease Registry reading frame rule dystrophin multiple logistic regression analysis exon skipping therapy Amyotrophic Lateral Sclerosis machine learning genome-wide association studies GWAS genomics ALS pathology gene prioritization AAV genetic neuromuscular disorders gene therapy clinical trials toxicity SMA DMD XLMTM facioscapulohumeral dystrophy TALEN CRISPR-Cas9 gene editing polyadenylation D4Z4 duchenne muscular dystrophy (DMD) becker muscular dystrophy (BMD) exon skipping skip-equivalent deletions |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Understanding Neuromuscular Health and Disease |
| Record Nr. | UNINA-9910557669103321 |
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Duddy William
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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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