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|a Neurogenetics.
|n Part I /
|c edited by Daniel H. Geschwind, Henry L. Paulson, and Christine Klein.
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|a Amsterdam, Netherlands :
|b Elsevier,
|c [2018]
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|c �2018
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|a Handbook of clinical neurology ;
|v volume 147
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|a Includes bibliographical references and index.
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|a Section I. Basic genetic concepts. Clinical approach to the patient with neurogenetic disease / Thomas Bird -- Genetic and genomic testing for neurological disease in clinical practice / Brent L. Fogel and Daniel Geschwind -- Ethical issues in neurogenetics / Wendy R. Uhlmann -- Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease / Daniel Geschwind -- Epigenetic mechanisms underlying nervous system diseases / Mark F. Mehler and Irfan Qureshi -- Pharmacogenetics / Jeffrey R. Bishop -- Bioinformatics and genomic databases / Giovanni Coppola and Jason Chen -- Towards precision medicine / Pedro Gonzalez-Alegre -- Section II. Recurring biological themes in neurogenetics. Repeat expansion diseases / Henry Lauris Paulson -- Mitochondrial diseases / Carolyn Sue -- The CAG-polyglutamine repeat diseases: A clinical, molecular, genetic and pathophysiological nosology / Albert R. La Spada -- Section III. Movement disorders. Autosomal dominant cerebellar ataxias / Vikram Shakkottai -- Autosomal recessive cerebellar ataxias / Brent L. Fogel -- Genetics of Parkinson disease / Aloysius Domingo and Christine Klein -- Essential Tremor / Elan Louis and Lorraine Clark -- Inherited dystonias: Clinical features and molecular pathways / Corinne Elise Weisheit, Samuel S. Pappas and William Dauer -- Huntington's Disease / Sarah Tabrizi, Rhia Ghosh and Amanda Dolphin -- Wilson Disease and related copper disorders / Matthew Lorincz -- Neurodegeneration with brain iron accumulation (NBIA) / Susan Judith Hayflick and Penny Hogarth -- Primary familial brain calcifications / Maria-Jesus Sobrido -- Section IV. Neurodevelopmental disorders. Genetics of autism spectrum disorder / Daniel Geschwind -- The emerging genetic landscape of cerebral palsy / Clare Louise van Eyk, Mark Corbett and Alastair MacLennan -- Tourette disorder and other tic disorders / Thomas Fernandez, Matthew William State and Christopher Pittenger -- Sex chromosome aneuploidies / David Skuse, Frida Printzlau and Jeanne Wolstencroft -- Fragile X syndrome and fragile X-associated tremor ataxia syndrome / Deborah Ann Hall
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|a Online resource; title from electronic title page (ScienceDirect, viewed January 19, 2018).
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|a Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses.
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|a Geschwind, Daniel H.,
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|a Paulson, Henry L.,
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|a Klein, Christine,
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|i Print version:
|t Neurogenetics. Part I.
|d Amsterdam, Netherlands : Elsevier, [2018]
|z 9780444632333
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|a Handbook of clinical neurology ;
|v v. 147.
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|u https://sciencedirect.uam.elogim.com/science/handbooks/00729752/147
|z Texto completo
|