rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Inherited Neurological Disorders
    sub title: Diagnosis and Case Study
  name:
    name part: Wu, Zhi-Ying.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: si
    date issued: 2017
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: V, 147 p. 105 illus., 56 illus. in color. online resource.
  abstract: This book provides up-to-date information on various inherited neurological disorders, presenting 40 cases of inherited neurological disorders with genetic diagnosis and/or pathological confirming. These disorders include cerebellar ataxia (SCA1, SCA2, SCA3, etc.), epileptic attacks related disorders (MELAS, MERRF, TSC, etc.), motor neuron related disorders (ALS, HSP, CMT, etc.), movement disorders (PD, PKD, DRD, etc.), ion channel diseases (hypokalemic periodic paralysis, normal potassium periodic paralysis), muscle diseases (DMD, FSHD, LSM, etc.), and dementia and psychiatric disorders (HD, CADASIL, CARASIL, etc.). With the format of case study, one type of diseases is discussed on each chapter, basically consisted of 5 sections.Section 1 focuses on the detailed clinical features, physical examination and hematological examination, while Section 2addresses questions regarding diagnosis and differential diagnosis. Additional information such as imaging material and genetic/pathological results are provided in Section 3, followed by the final diagnosis in Section 4. Section 5 presents a systemic review for each specific disease. The book will benefit clinicians especially neurologists, medical students, researchers and healthcare professionals facing difficult cases, particularly those involving fundamental research and diagnostic methods. Zhi-Ying Wu is a chief physician, professor and tutor of Ph.D. at the Department of Neurology and the Director of the Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hanzhou, China. Her research focus is on screening for causative genes, analyzing genotype-phenotype correlations, and understanding molecular pathogenesis of neurological disorders.
  table of contents: Cerebellar ataxia -- Epileptic attacks related disorders -- Motor neuron related disorders -- Movement disorders -- Ion channel diseases -- Muscle Diseases -- Dementia and psychiatric disorders.
  note: edited by Zhi-Ying Wu.
  subject:
    topic: Medicine
  subject:
    topic: Neurology
  subject:
    topic: Medicine & Public Health
  subject:
    topic: Neurology
  classification: RC346-429.2
  classification: 616.8
  related item:
    title info:
      title: Springer eBooks
  identifier: 9789811041969
  identifier: http://dx.doi.org/10.1007/978-981-10-4196-9
  record info:
    record creation date: 170714
    record change date: 20170714112831.0
    record identifier: 978-981-10-4196-9