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Neurodegenerative Diseases : Clinical Aspects, Molecular Genetics and Biomarkers / / edited by Daniela Galimberti, Elio Scarpini
| Neurodegenerative Diseases : Clinical Aspects, Molecular Genetics and Biomarkers / / edited by Daniela Galimberti, Elio Scarpini |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | London : , : Springer London : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (266 p.) |
| Disciplina |
599935
610 611.01816 612.8 |
| Soggetto topico |
Neurology
Neurosciences Human genetics Neurology Human Genetics |
| ISBN | 1-4471-6380-X |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Genetics and Epigenetics: Basic Concepts -- Alzheimer’s Disease: Clinical Aspects and Treatments -- Autosomal Dominant Alzheimer’s Disease: Underlying Causes -- Genetic Risk Factors for Alzheimer’s Disease -- The Role of Cerebrovascular Disease in Cognitive Disease -- Non-genetic Risk Factors for Alzheimer’s disease -- Frontotemporal Lobar Degeneration: Genetics and Clinical Phenotypes -- Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Mouse Models -- Cerebrospinal Fluid Biomarkers in Alzheimer’s Disease and Frontotemporal Dementia -- Biomarkers for Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Imaging -- Amyotrophic Lateral Sclerosis: Genotypes and Phenotypes -- Uncommon Dementias -- Neurodevelopment Alterations, Neurodegeneration and Immunoinflammatory Patterns in the Pathophysiology of Schizophrenia -- Neurodegeneration and Multiple Sclerosis. |
| Record Nr. | UNINA-9910300096403321 |
| London : , : Springer London : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Neuromuscular Disorders in Clinical Practice / / edited by Bashar Katirji, Henry J. Kaminski, Robert L. Ruff
| Neuromuscular Disorders in Clinical Practice / / edited by Bashar Katirji, Henry J. Kaminski, Robert L. Ruff |
| Edizione | [2nd ed. 2014.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (1565 p.) |
| Disciplina |
599935
610 611.01816 616 |
| Soggetto topico |
Neurology
Rheumatology Internal medicine Human genetics Neurology Internal Medicine Human Genetics |
| ISBN | 1-4614-6567-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Clinical Assessment in Neuromuscular Disorders -- Nerve and Muscle: Basic Concepts -- Serum Muscle Enzymes in Neuromuscular Disease -- Autoantibody Testing in Peripheral Neuropathy -- Autoantibody Testing of Autoimmune Neuromuscular Junction, Hyperexcitability, and Muscle Disorders -- Forearm Exercise Testing -- Clinical Electromyography (Nerve Conduction Studies and Needle Electromyography) -- Single Fiber EMG -- Quantative EMG Analysis -- Testing of Autonomic Function -- Quantitative sensory testing -- Nerve and Muscle Biopsies -- Skin Biopsy -- Molecular Diagnosis & Genetic Testing -- Outcome Measures and Clinical Assessment Instruments in Neuromuscular Disease -- Physical Management of Patients with Neuromuscular Diseases -- Immunotherapy in the treatment of Autoimmune Neuromuscular Diseases -- Critical and Respiratory Care in Neuromuscular Disorders -- Poliomyelitis and Postpoliomyelitis Syndrome -- Amyotrophic Lateral Sclerosis -- Spinal Muscular Atrophies -- Atypical Motor Neuron Disorders -- Dorsal Root Ganglion Disorders -- Approach to Peripheral Nerve Disorders -- Approach to Small Fiber Neuropathy -- Charcot-Marie Tooth Diseases -- Inherited Metabolic Neuropathies -- Guillian-Barre Syndrome and Related Disorders -- Chronic Inflammatory Demyelinating Polyradiculneuropathy and Related Disorders -- Dysproteinemic Neuropathies -- Diabetic Neuropathies -- Nutritional and Alcoholic Neuropathies -- Metabolic and Endocrine Neuropathies -- Environmental Toxic Neuropathies -- Drug-Induced Toxic Neuropathies -- Vasculitic Neuropathies and Neuropathies of Connective Tissue Disorder -- Vasculitic Neuropathies and Neuropathies of Connective Tissue Diseases -- Infectious and Granulomatous Peripheral Neuropathies -- Peripheral Nerve Injury -- Compressive and Entrapment Neuropathies of the Upper Extremities -- Compressive and Entrapment Mononeuropathies of the Lower Extremity -- Cranial Nerve Palsies -- Peripheral Nerve Tumors -- Cervical Radiculopathy -- Lumbosacral and Thoracic Radiculopathies -- Brachial Plexopathies -- Lumbosacral Plexopathies -- Myasthenia Gravis -- Lambert-Eaton Myasthenic Syndrome -- Botulism -- Congenital Myasthenic Syndromes -- Toxic Neuromuscular Transmission Disorders -- Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis and Related Syndromes -- Malignant Hypothermia -- Approach to Myopathies -- Dystrophinopathies -- Limb Girdle Muscular Dystrophies -- Facioscapulohumeral Muscular Dystrophy -- The Myotonic Dystrophies -- Oculopharyngeal Muscular Dystrophy -- Emery-Dreifuss Muscular Dystrophy -- Congenital Myopathies -- Metabolic Myopathies -- Mitochondrial Myopathies -- Inflammatory Myopathies -- Paraspinous Myopathies: The Dropped Head and Bent Spine Syndromes -- Endocrine Myopathies -- Toxic Myopathies -- Infectious and Granulomatous Myopathies -- Myokymia and Neuromyotonia -- Muscle Cramps and Fasciculations -- Stiff Man Syndrome -- Tetanus -- Neuropletic Malignant Syndrome -- Paraneoplastic Neuromuscular Disorders -- Acute Neuromuscular Weakness in the Intensive Care Unit -- Floppy Infant -- Rhabdomyolyis and Myoglobinuria -- Eosinophilia-Myalgia Syndrome, Eosinophilic Fasciitis, and Related Fasciitis Disorders -- Neuropathic Pain and other Chronic Musculoskeletal Pain Conditions. |
| Record Nr. | UNINA-9910300093203321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Next generation sequencing in cancer research . Volume 1 Decoding the cancer genome / / Wei Wu, Hani Choudhry, editors
| Next generation sequencing in cancer research . Volume 1 Decoding the cancer genome / / Wei Wu, Hani Choudhry, editors |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | New York, : Springer Science, 2013 |
| Descrizione fisica | 1 online resource (383 p.) |
| Disciplina |
570285
599935 610 611.01816 |
| Altri autori (Persone) |
WuWei
ChoudhryHani |
| Soggetto topico |
Cancer - Genetic aspects
Gene mapping |
| ISBN | 1-4614-7645-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction: next generation sequencing technology and cancer research -- The majority of total nuclear-encoded non-ribosomal RNA in a human cell is ‘dark matter’ unannotated RNA -- Total RNA-seq of breast cancer in hypoxia -- Altered antisense-to-sense transcript ratios in breast cancer -- Identification of piRNAs in Hela cells by massive parallel sequencing -- Discovery of new microRNAs by small RNAome deep sequencing in childhood acute lymphoblastic leukemia -- Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome -- Whole-exome sequencing in CIC and IDH1/2 contributing to human oligodendroglioma -- Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing -- Tumour evolution inferred by single-cell sequencing -- Characterization of the single-cell transcriptional landscape by highly multiplex RNA-seq -- Tracing the derivation of embryonic stem cells from the inner cell mass by single-cell RNASeq analysis -- Whole genome DNA methylation analysis based on high throughput sequencing technology -- Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors -- High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq -- MicroRNA transfection and AGO-bound CLIP-seq data sets reveal distinct determinants of miRNA action -- Genome-wide identification of polycomb-associated RNAs by RIP-seq -- Single-molecule sequencing: sequence methods to enable accurate quantisation -- Metabolic labeling of RNA uncovers principles of RNA production and degradation dynamics in mammalian cells -- Reprogramming transcription by distinct classes of enhancers functionally defined by eRNA -- The genome information process for cancer research: the challenge and perspective -- Index. |
| Record Nr. | UNINA-9910739439803321 |
| New York, : Springer Science, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Next Generation Sequencing in Cancer Research, Volume 2 : From Basepairs to Bedsides / / edited by Wei Wu, Hani Choudhry
| Next Generation Sequencing in Cancer Research, Volume 2 : From Basepairs to Bedsides / / edited by Wei Wu, Hani Choudhry |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (500 p.) |
| Disciplina |
570285
599935 610 611.01816 614.5999 |
| Soggetto topico |
Cancer research
Human genetics Bioinformatics Cancer Research Human Genetics |
| ISBN | 3-319-15811-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Single-cell next Generation Sequencing and Its Applications in Cancer Biology -- Utility of Next Generation Sequencing in Cancer Drug Development and Clinical Trials -- Next-Generation Sequencing in the Era of Cancer-Targeted Therapies: Towards the Personalised Medicine -- Mutational Similarities Across Cancers: Implications for Research, Diagnostics and Personalized Therapy Design -- Standardized Decision Support in NGS Reports of Somatic Cancer Variants -- Clinical Considerations in the Conduct of Cancer Next Generation Sequencing Testing and Genetic Counselling -- Next Generation Sequencing for Cancer Biomarker Discovery -- Validation and Implementation of Next Generation Sequencing Technologies in a Clinical Molecular Diagnostic Laboratory -- Next Generation Sequencing Technologies and Formalin Fixed Paraffin Embedded Tissue: Application to Clinical Cancer Research -- Applications of NGS to Screen FFPE Tumours for Detecting Fusion Transcripts -- Clinical Application of Next-Generation Sequencing of Formalin-Fixed Paraffin-Embedded Tumors -- ChIP-BS-Sequencing in Cancer Epigenomics -- Integrative Analysis Identifies Transcription Factor-DNA Methylation Relationships and Introduces New Avenues for Translating Cancer Epigenetics Into the Clinic -- Differential Methylation Analysis with Next-Generation Sequencing -- Performance Comparison and Data Analysis Strategies for MicroRNA Profiling in Cancer Research -- Small RNA Sequencing for Squamous Cell Carcinoma Research -- Exome Capture and Capturing Technologies in Cancer Research -- The Landscape of DNA Virus Associations Across Human Malignant Cancers -- Using Next Generation Sequencing to Reveal Patterns of Chromosomal Alterations in Oral Verrucous Carcinoma -- Vironomics: The Study of Viral Genomics in Human Cancer and Disease -- Molecular Typing of Lung Adenocarcinoma on Cytological Samples in the Next Generation Sequencing Era -- Whole Genome/Exome Sequencing in Acute Leukemia: From Research to Clinics -- Next Generation Sequencing Applications in Head and Neck Oncology -- CIC Mutation in Brain Tumor -- Isocitrate Dehydrogenase (IDH) Mutation in Gliomas -- Utilization of Multigene Panels in Hereditary Cancer Predisposition Testing. |
| Record Nr. | UNINA-9910298296903321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Non-coding RNAs and Cancer / / edited by Muller Fabbri
| Non-coding RNAs and Cancer / / edited by Muller Fabbri |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (287 p.) |
| Disciplina |
571.6
572 572.6 599935 |
| Soggetto topico |
Cancer research
Cell biology Biochemistry Posttranslational modification Gene expression Human genetics Cancer Research Cell Biology Biochemistry, general Posttranslational Modification Gene Expression Human Genetics |
| ISBN | 1-4614-8444-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Biogenesis and Physiology of microRNAs.-Detecting non-coding RNA expression: from arrays to next generation sequencing -- MicroRNAs in Solid Tumors.-MicroRNAs in hematologic malignancies -- miRNAs as Cancer Biomarkers -- Unraveling the complex network of interactions between non-coding RNAs and epigenetics in cancer -- MicroRNA SNPs in Cancer -- Bioinformatics Approaches to the study of microRNAs -- Beyond miRNAs: role of other non-coding RNAs in cancer -- Translational Implications for non-coding RNA in Cancer -- Index. |
| Record Nr. | UNINA-9910298337703321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Omics Approaches in Breast Cancer [[electronic resource] ] : Towards Next-Generation Diagnosis, Prognosis and Therapy / / edited by Debmalya Barh
| Omics Approaches in Breast Cancer [[electronic resource] ] : Towards Next-Generation Diagnosis, Prognosis and Therapy / / edited by Debmalya Barh |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | New Delhi : , : Springer India : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (559 p.) |
| Disciplina |
599935
610 611.01816 614.5999 |
| Soggetto topico |
Oncology
Gynecology Human genetics Pathology Cancer research Oncology Gynecology Human Genetics Cancer Research |
| ISBN | 81-322-0843-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Omics Technologies Applied in Breast Cancer Research -- Omics of Hereditary Breast Cancer.-Oncogenes and Tumor Supressor Genes as a Biomarker in Breast Cancer.-Breast Cancer Genomics.-Epigenomics of Breast Cancer.-Nutrigenomics in Breast Cancer.-Long Non-coding RNAs in Breast Cancer: Implications for Pathogenesis, Diagnosis and Therapy.-Breast Cancer MicroRNAs: Clinical Biomarkers for the Diagnosis and Treatment Strategies.-Breast Cancer Proteomics.-Metabolomics in Breast Cancer.-Lipidomics in Breast Cancer.-Breast Cancer Stem Cells and Cellomics.-Omics of Male Breast Cancer.-Omics of Chemoresistant and Metastatic Breast Cancer.-Animal Models of Breast Cancer.-In Silico Disease Models of Breast Cancer -- Systems Biology and Integrative Omics in Breast Cancer -- Gynecologic Considerations for Women with Breast Cancer.-Imaging Technologies and Applications in Early Diagnosis and Prognosis for Breast Cancer -- Breast Cancer Biomarkers for Risk Assessment, Screening, Detection, Diagnosis, and Prognosis -- Breast Circulating Tumor Cells: Potential Biomarkers for Breast Cancer Diagnosis and Prognosis Evaluation.-Molecular Diagnosis Of Metastasizing Breast Cancer Based Upon Liquid Biopsy -- Exhaled Volatile Organic Compounds as Non-Invasive Markers in Breast Cancer -- Breast Cancer Therapy–Classical Therapy, Drug Targets and Targeted Therapy -- Pharmacogenomics–Pharmacoepigenomics of Breast Cancer Therapy: Clinical Implications -- Breast Cancer Gene Therapy -- Clinical Trial Endpoints in Breast Cancer. |
| Record Nr. | UNINA-9910300339303321 |
| New Delhi : , : Springer India : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici
| Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (880 p.) |
| Disciplina |
599935
610 610724 611.01816 |
| Soggetto topico |
Metabolic diseases
Medical biochemistry Pediatrics Laboratory medicine Human genetics Metabolic Diseases Medical Biochemistry Laboratory Medicine Human Genetics |
| ISBN | 3-642-40337-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles. |
| Record Nr. | UNINA-9910300081103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Population Neuroscience / / by Tomas Paus
| Population Neuroscience / / by Tomas Paus |
| Autore | Paus Tomas |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (184 p.) |
| Disciplina |
530.12
599935 610 611.01816 |
| Soggetto topico |
Neurosciences
Radiology Epidemiology Human genetics Imaging / Radiology Human Genetics |
| ISBN | 3-642-36450-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Terms and Concepts -- History of the Key Disciplines -- Enviromics -- Genomics -- Epigenomics -- Molecular Phenomics -- Systems Phenomics -- Cohorts -- Challenges -- Personalized Preventive Medicine. |
| Record Nr. | UNINA-9910739469703321 |
Paus Tomas
|
||
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Primary Aldosteronism : Molecular Genetics, Endocrinology, and Translational Medicine / / edited by Per Hellman
| Primary Aldosteronism : Molecular Genetics, Endocrinology, and Translational Medicine / / edited by Per Hellman |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (242 p.) |
| Disciplina |
599935
610 611.01816 616 |
| Soggetto topico |
Human genetics
Endocrinology Medicine Human Genetics Endocrinology Biomedicine, general |
| ISBN | 1-4939-0509-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Primary Aldosteronism: Molecular Mechanisms and Diagnosis -- Epidemiology and need for screening -- Low renin hypertension -- Molecular derangements in sporadic primary aldosteronism -- From genetic abnormalities to pathophysiological mechanisms -- Familial hyperaldosteronism type I -- Familial hyperaldosteronism type II -- Familial hyperaldosteronism type III -- The Aldosterone-renin ratio – role and problems -- Confirmatory testing for Primary Aldosteronism -- Radiological imaging of adrenocortical tumors -- Aldosterone and cardiovascular disease -- Quality of life aspects of primary aldosteronism -- Medical treatment of primary aldosteronism -- Surgical treatment of primary aldosteronism -- Index. |
| Record Nr. | UNINA-9910298313803321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Stearoyl-CoA Desaturase genes in lipid metabolism / / James M. Ntambi, editor
| Stearoyl-CoA Desaturase genes in lipid metabolism / / James M. Ntambi, editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | New York, : Springer, c2013 |
| Descrizione fisica | 1 online resource (241 p.) |
| Disciplina |
572.57
599935 610 611.01816 |
| Altri autori (Persone) | NtambiJames M |
| Soggetto topico |
Coenzymes
Lipids - Metabolism |
| ISBN | 1-4614-7969-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | SCD genes of fatty acid synthesis -- SCD genes in heart metabolism -- SCD genes in liver metabolism -- SCD genes in harderian and perpetual glands -- SCD genes In lipogenesis -- SCD genes lipoproteins -- SCD genes in WAT -- SCD genes in muscle -- SCD genes in the brain -- SCD genes in inflammation -- SCD genes in ER Stress -- SCD genes in skin -- SCD genes in insulin signaling -- SCD genes in thermogenesis -- SCD genes in diabetes -- SCD genes atherosclerosis -- SCD genes in Adipocyte differentiation -- SCD genes and epigenetics -- SCD genes in fatty liver disease -- SCD genes in Colitis -- SCD genes in leptin signaling. |
| Record Nr. | UNINA-9910437615603321 |
| New York, : Springer, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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