Neurogenetics. Part I /

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 o...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Geschwind, Daniel H. (Editor ), Paulson, Henry L. (Editor ), Klein, Christine, 1969- (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam, Netherlands : Elsevier, [2018]
Colección:Handbook of clinical neurology ; v. 147.
Temas:
Neurogenetics.
Nervous system > Diseases > Genetic aspects.
Genetic disorders.
Genetic screening.
Nervous System Diseases > genetics
Genetic Diseases, Inborn
Neurodevelopmental Disorders > genetics
Genetics, Medical > methods
Genetic Testing
Neurog�en�etique.
Syst�eme nerveux > Maladies > Aspect g�en�etique.
Maladies g�en�etiques.
D�epistage g�en�etique.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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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