Genomic Structural Variants in Nervous System Disorders, House, Patrick

Автор: Dalmau, Josep (universitat De Barcelona) Graus, Fr
Название: Autoimmune encephalitis and related disorders of the nervous system
ISBN: 1108583512 ISBN-13(EAN): 9781108583510
Издательство: Cambridge Academ
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Описание: A comprehensive and practical clinical reference guide to the differential diagnosis and treatment of autoimmune encephalitis and related disorders. Over 200 figures and 30 high quality videos illustrate the concepts covered in the book and numerous clinical vignettes ground information in real world scenarios that readers may encounter.

Автор: Chabas
Название: Demyelinating Disorders of the Central Nervous System in Childhood
ISBN: 0521763495 ISBN-13(EAN): 9780521763493
Издательство: Cambridge Academ
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Описание: Although up to 5 per cent of those with multiple sclerosis experience symptoms before the age of 18, there is a lack of awareness about these diseases in childhood. Providing comprehensive coverage of these diseases in children, this book is essential reading for pediatric and adult neurologists and MS specialists.

Автор: Abel Lajtha
Название: Structural Elements of the Nervous System
ISBN: 146844588X ISBN-13(EAN): 9781468445886
Издательство: Springer
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Автор: Peter Riederer; M.B.H. Youdim
Название: Iron in Central Nervous System Disorders
ISBN: 3211825207 ISBN-13(EAN): 9783211825204
Издательство: Springer
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Описание: Thus nutritional iron defi- ciency and iron overload afflict some 500-600 million people. It is also well recognized that too little or too much iron can produce profound effects on the metabolic state of the cell, and therefore the regulation of iron uptake and disposition is tightly relegated by the cell.

Автор: Dale
Название: Inflammatory and Autoimmune Disorders of the Nervous System in Children
ISBN: 1898683662 ISBN-13(EAN): 9781898683667
Издательство: Wiley
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Описание: Inflammatory disorders of the nervous system, although individually uncommon, collectively make up 10-20% of acute paediatric neurology presentations and many are potentially treatable Provides a detailed and comprehensive summary of the childhood diseases that are caused by the immune system and their treatments .

Автор: McKinney
Название: Atlas of Head/Neck and Spine Normal Imaging Variants
ISBN: 3030070387 ISBN-13(EAN): 9783030070380
Издательство: Springer
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Цена: 20123.00 р.
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Описание: Comprised of seven chapters, this atlas focuses on specific topical variations, among them head-neck variants, orbital variants, sinus, and temporal bone variants, and cervical, thoracic, and lumbar variations of the spine.

Автор: Carpenter, Ellen
Название: Genetic and Genomic Approaches to the Nervous System
ISBN: 0815345224 ISBN-13(EAN): 9780815345220
Издательство: Taylor&Francis
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Автор: Smith, Moyra (division Of Genetic And Genomic Medicine, Department Of Pediatrics, University Of California Irvine, Irvine, Ca, United States)
Название: Mechanisms and genetics of neurodevelopmental cognitive disorders
ISBN: 0128219130 ISBN-13(EAN): 9780128219133
Издательство: Elsevier Science
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Описание:

Mechanisms and Genetics of Neurodevelopmental Cognitive Disorders connects neurodevelopment with genetics and behavior to better understand the underlying factors leading to cognitive neurodevelopmental disorders. This book focuses on mechanisms of disease and follows the development of specific brain regions, functions, and gene expression to causes and processes in autism, attention deficit disorder, and learning disabilities. Topics include brain mapping, brain plasticity, epigenetics, neuroimmunology, and many other factors that influence the development of these diseases.

Автор: Robert
Название: Anatomy of Cranial Arteries, Embryology and Variants
ISBN: 3031329120 ISBN-13(EAN): 9783031329128
Издательство: Springer
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Описание: This book on the anatomy of central nervous system arteries concentrates on all anatomical variations of the central nervous system and it describes the embryological processes that hide behind the possible adult variants. The first section of the work is a reminder of general concepts of embryology. After that, each section corresponds to arteries of an anatomical location: intradural, dural, skull base and cranio-cervical junction. Each chapter is dedicated to a single artery to facilitate the reader’s search for information. In addition, modern and detailed illustrations of the embryological steps and adult variants are included. There are two types of illustrations: artist’s drawing, usually to explain the vascular embryology, and angiographic images. The central point of the book lies in the space devoted to the embryological development of each artery and the processes that can lead to the development of different variants in the adult. The audience of this book is aimed at neurosurgeons and neuroradiologists, specialists in the neurovascular area, but it will also help residents in neurosurgery, neuroradiology and neurology in their daily practice.

Автор: Jos? Mar?a Frade; Fred H. Gage
Название: Genomic Mosaicism in Neurons and Other Cell Types
ISBN: 1493972790 ISBN-13(EAN): 9781493972791
Издательство: Springer
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Описание:

Neuromethods Series Preface...
Preface...
Table of Contents...
Contributing Authors...

Part I Introduction

1. Principles and Approaches for Discovery and Validation of Somatic Mosaicism in the Human Brain
Alexej Abyzov, Alexander E. Urban, and Flora M. Vaccarino

Part II Aneuploidy and Ploidy Variation

2. FISH-Based Assays for Detecting Genomic (Chromosomal) Mosaicism in Human Brain Cells
Yuri B. Yurov, Svetlana G. Vorsanova, Ilia V. Soloviev, Alexei M. Ratnikov, and Ivan Y. Iourov

3. Flow Cytometric and Sorting Analyses for Nuclear DNA Content, Nucleotide Sequencing and Interphase FISH
Gwendolyn E. Kaeser and Jerold Chun

4. Flow Cytometric Quantification, Isolation, and Subsequent Epigenetic Analysis of Tetraploid Neurons
Noelia Lуpez-Sбnchez, Iris Patiсo-Parrado, and Josй M. Frade

5. A Cytomic Approach towards Genomic Individuality of Neurons
Thomas Arendt, Birgit Belter, Martina K. Brьckner, Uwe Ueberham, Markus Morawski, and Attila Tarnok

Part III DNA Copy Number Variation

6. Single Cell CNV Detection in Human Neuronal Nuclei
Margaret B. Wierman, Ian E. Burbulis, William D. Chronister, Stefan Bekiranov, and Michael J. McConnell

7. Multiple Annealing and Looping-Based Amplification Cycles (MALBAC) for the Analysis of DNA Copy Number Variation
Chenghang Zong

8. Competitive PCR for Copy Number Assessment by Restricting dNTPs
Luming Zhou, Robert A. Palais, Yotam Ardon, and Carl T. Wittwer

9. Using Cloning to Amplify Neuronal Genomes for Whole Genome Sequencing and Comprehensive Mutation Detection and Validation
Jennifer L. Hazen, Michael A. Duran, Ryan P. Smith, Alberto R, Rodriguez, Greg S. Martin, Sergey Kupriyanov, Ira M. Hall, and Kristin K. Baldwin

Part IV LINE-1 Retrotransposition

10. Analysis of LINE-1 Retrotransposition in Neural Progenitor Cells and Neurons
Angela Macia and Alysson R. Muotri

11. Estimation of LINE-1 Copy Number in the Brain Tissue and Isolated Neuronal Nuclei
Miki Bundo, Tadafumi Kato, and Kazuya Iwamoto

12. Analysis of Somatic LINE-1 Insertions in Neurons
Francisco J. Sanchez-Luque, Sandra R. Richardson, and Geoffrey J. Faulkner

13. Single-Cell Whole Genome Amplification and Sequencing to Study Neuronal Mosaicism and Diversity
Patrick J. Reed, Meiyan Wang, Jennifer A. Erwin, Apuг C.M. Paquola, and Fred H. Gage

Part V Genetic and Genomic Mosaicism in Aging and Disease

14. FISH Analysis of Aging-Associated Aneuploidy in Neurons and Non-Neuronal Brain Cells
Grasiella A. Andriani and Cristina Montagna

15. Genomic Analysis and In Vivo Functional Validation of Brain Somatic Mutations Leading to Focal Cortical Malformations
Jae Seok Lim and Jeong Ho Lee

16. Using Fluorescence In Situ Hybridization (FISH) Analysis to Measure Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative Diseases
Julbert Caneus, Antoneta Granic, Heidi J. Chial, Huntington Potter

17. Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease
Carlo Sala Frigerio, Mark Fiers, Thierry Voet, and Bart De Strooper

Автор: Bulayeva Kazima, Bulayev Oleg, Glatt Stephen
Название: Genomic Architecture of Schizophrenia Across Diverse Genetic Isolates: A Study of Dagestan Populations
ISBN: 3319811649 ISBN-13(EAN): 9783319811642
Издательство: Springer
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Описание: This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia. Dagestan is characterized by extreme cultural and linguistic differences in a small geographic area and contains 26 indigenous ethnic groups. According to archeological data these indigenous highland ethnics have been living in the same area for more than ten thousand years. Our long-term population-genetic study of Dagestan indigenous ethnic groups indicates their close relation to each other and suggests that they evolved from one common ancestral meta-population. Dagestan has an extremely high genetic diversity between ethnic populations and a low genetic diversity within them. Such genetic isolates are exceptional resources for the detection of susceptibility genes for complex diseases because of the reduction in genetic and clinical heterogeneity. The founder effect and gene drift in these primary isolates may have caused aggregation of specific haplotypes with limited numbers of pathogenic alleles and loci in some isolates relative to others. The book presents a study in four ethnically and demographically diverse genetic isolates with aggregation of schizophrenia that we ascertained within our Dagestan Genetic Heritage Research Project. The results obtained support the notion that mapping genes of any complex disease (e.g., schizophrenia) in demographically older genetic isolates may be more time and cost effective due to their high clinical and genetic homogeneity, in comparison with demographically younger isolates, especially with genetically heterogeneous outbred populations.

Автор: Jean Champagnat; Monique Denavit-Saubie; Gilles Fo
Название: Post-Genomic Perspectives in Modeling and Control of Breathing
ISBN: 1489973427 ISBN-13(EAN): 9781489973429
Издательство: Springer
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Описание: Post Genomic Perspectives in Modeling and Control of Breathing is comprised of the proceedings of the IXth Oxford Conference on Modeling and Control of Breathing, held September 13-16, 2003 in Paris, France.