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Inherited neurological disorders = d...

Wu, Zhi-Ying.

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Inherited neurological disorders = diagnosis and case study /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Inherited neurological disorders/ edited by Zhi-Ying Wu.
其他題名:	diagnosis and case study /
其他作者:	Wu, Zhi-Ying.
出版者:	Singapore :Springer Singapore : : 2017.,
面頁冊數:	v, 147 p. :ill. (some col.), digital ;24 cm.
內容註:	Cerebellar ataxia -- Epileptic attacks related disorders -- Motor neuron related disorders -- Movement disorders -- Ion channel diseases -- Muscle Diseases -- Dementia and psychiatric disorders.
Contained By:	Springer eBooks
標題:	Nervous system - Diseases -
電子資源:	http://dx.doi.org/10.1007/978-981-10-4196-9
ISBN:	9789811041969

Inherited neurological disorders = diagnosis and case study /
Inherited neurological disordersdiagnosis and case study /[electronic resource] :edited by Zhi-Ying Wu. - Singapore :Springer Singapore :2017. - v, 147 p. :ill. (some col.), digital ;24 cm.

Cerebellar ataxia -- Epileptic attacks related disorders -- Motor neuron related disorders -- Movement disorders -- Ion channel diseases -- Muscle Diseases -- Dementia and psychiatric disorders.

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.

ISBN: 9789811041969

Standard No.: 10.1007/978-981-10-4196-9doiSubjects--Topical Terms:

682330
Nervous system
--Diseases

LC Class. No.: RC346.4

Dewey Class. No.: 616.80442

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520 $a 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.
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