Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
[amazon asin=3039216104&template=iframe image]
GET IT FREE HERE
https://katfile.com/4eheeuxreh83/3039216104.pdf.html
ALTERNATIVE LINK
Neurological Practice: An Indian Perspective – E-Book
- Thoroughly revised and updated text and references
- Each chapter deals with the Indian perspective of epidemiology, clinical presentations and
prevalent management principles, pointing out the differences and similarities with world literature
- More diagrams, figures and tables are added to make the text self-explanatory
- Headache
- Tumours of Central Nervous System
[amazon asin=B00UHEX9F2&template=iframe image]
GET IT FREE HERE
https://katfile.com/a9vy9tekh41i/B00UHEX9F2.pdf.html
ALTERNATIVE LINK
Adult Epilepsy, 2nd Edition
[amazon asin=1119431824&template=iframe image]
GET IT FREE HERE
https://katfile.com/aujsfzp3s7ot/1119431824.pdf.html
ALTERNATIVE LINK
https://nitro.download/view/EF60F4406AFED97/1119431824.pdf
700 Essential Neurology Checklists 1st Edition
700 Essential Neurology Checklists is a collection of essential checklists which provide handy, practical, comprehensive, and evidence-based information on every aspect of neurology.
The checklists cover all aspects of neurology and its allied specialties, and they were developed to minimise error and boost clinical safety in the care of neurological patients. The lists included in the book apply to all aspects of neurology, a specialty noted for its size, diversity, and complexity, and they place emphasis on all aspects of neurological practice, from history and clinical examination to investigations and treatment. They also contain details of aetiology, epidemiology, genetics, and pathology. The information is primarily sourced from widely regarded neurology journals such as Neurology, Brain, the JNNP, Practical Neurology, and Journal of Neurology, and the emphasis is on evidence-based guidelines, review articles, ground-breaking studies, and relevant case reports.
The checklists in the book will be of benefit not only to neurologists and neurology trainees, but to all medical professionals including psychiatrists, neurosurgeons, paediatricians, general physicians, obstetricians, ophthalmologists, and specialist nurses. Purchasers of the book will also be eligible for a 12-month complimentary access to more than 3,500 online neurology checklists at www.neurochecklists.com
[amazon asin=B09MSNGS9B&template=iframe image]
GET IT FREE HERE
https://katfile.com/skt9qbdpfzq5/B09MSNGS9B.pdf.html
ALTERNATIVE LINK
Handbook of EEG Interpretation, Third Edition – A Comprehensive EEG Book for Neurology Residents and Fellows, Clinicians, and Technologists 3rd Edition
Thoroughly updated and expanded Third Edition of the most trusted resource for anyone involved in EEG interpretation. Designed for on-the-go reference in the clinic or at the bedside, Handbook of EEG Interpretation concisely covers the fundamental components of EEG in clinical practice with graphic examples of classic EEG presentations and essential text throughout. Six new chapters have been added to address areas of growing importance with new dedicated chapters on technical aspects and artifacts of recording. With chapters written by prominent experts, this portable reference includes updated examples and color images new to this edition to reflect current advances in the field.
Using a visual approach to identifying EEG waveforms, this EEG handbook is the prime point-of-care reference on all major EEG topics: normal and abnormal variants, epileptiform and nonepileptiform abnormalities, adult and pediatric seizures, status epilepticus, ICU EEG, and sleep; in addition to ambulatory and video-EEG monitoring, electrocorticography, and magnetoencephalography. Essential “bottom-line” information in every chapter helps guide clinicians through the many challenges of EEG interpretation to improve patient outcomes. Practical tips from authors are included in a user-friendly manner. Designed for rapid retrieval and structured review, this handbook is a highly useful tool for neurology residents and fellows, clinicians, and technologists in search of reliable EEG information, regardless of specialty or level of training.
Key Features:
- Third edition of the comprehensive, easy to read, quick access handbook on EEG interpretation
- Updated to reflect advanced clinical EEG applications and techniques
- Expanded coverage with the addition of six entirely new chapters
- Provides a visual approach to identifying EEG waveforms and understanding the essence of their clinical significance with over 300 color tracings
- Purchase includes access to the eBook for use on most mobile devices or computers
- Publisher: Springer Publishing Company
[amazon asin=0826147089&template=iframe image]
GET IT FREE HERE
https://katfile.com/te1s5vv84sfe/0826147089.pdf.html
ALTERNATIVE LINK
Color Atlas of Neurology (Clinical Sciences (Thieme)) 1st edition
Highly Commended at the 2004 British Medical Awards Medical Book Competition!
Neurology – made visible
Every practitioner in modern medicine is confronted daily with neurologic symptoms, diagnoses, and clinical problems. Yet there is scarcely any other medical specialty that is so fraught with complexities and abstractions. This pocket atlas is designed to provide a better, easier-to-understand visual guide on what the reader needs to know about neurology. In a unique way, neurology is made visible in the truest sense of the word.
Coverage includes:
- The basic principles of neuroanatomy and neurophysiology (structure of the CNS, peripheral nerves, stimulus transmission, nerve conduction velocity, etc.)
- Diagnostic methods and procedures (clinical examinations, electrophysiologic techniques, imaging studies, etc.).
- Neurologic disorders including their clinical manifestations, pathogenesis, and principles of treatment.
These topics and more are covered in elaborately drawn, meticulously labeled illustrations. The effective concept of placing the illustrations opposite the descriptive text for a particular subject has created word-and-picture units that combine maximum teaching impact with an optimum density of information. Neurologic relationships can be grasped literally at a glance. This pocket atlas is intended for medical students, physicians, and other medical professionals (nurses, physical therapists, occupational therapists, speech therapists) who could profit from a visual guide to neurology.
[amazon asin=1588901912&template=iframe image]
GET IT FREE HERE
https://katfile.com/jgz42l57gmqa/1588901912.pdf.html
ALTERNATIVE LINK
Inderbir Singh’s Textbook of Human Neuroanatomy: (Fundamental & Clinical) 9th Edition
Brand New International Paper-back Edition Same as per description, **Economy edition, May have been printed in Asia with cover stating Not for sale in US. Legal to use despite any disclaimer on cover. Save Money. Contact us for any queries. Best Customer Support! All Orders shipped with Tracking Number
[amazon asin=9352701488&template=iframe image]
GET IT FREE HERE
https://katfile.com/igaobvjj0yrp/9352701488.pdf.html
ALTERNATIVE LINK
Neurological Examination Made Easy 6th Edition
Neurological clinical examinations are some of the most intimidating procedures medical students, junior doctors and residents have to perform. This book’s clear, succinct explanations and simple/memorable line drawings, along with top tips/common mistakes boxes, combine to demystify the subject and offer straightforward guidance. The spectacular success of the book over many years demonstrates that it succeeds more than any other resource available. This 6th edition will ensure the content remains as fresh, current and easy to interpret as ever.
- A concise and lucid explanation of how to examine the nervous system.
- Copiously illustrated with clear line diagrams and flow charts.
- Instructions are clear and systematic – what to do, what you will find, and what it means.
- New simplified line drawings have been added.
- The new edition contains an expanded summary of how to perform a complete neurological examination.
- The book will be available on the StudentConsult library.
[amazon asin=0702076279&template=iframe image]
GET IT FREE HERE
https://katfile.com/cbh4p1ieaie8/0702076279.pdf.html
ALTERNATIVE LINK