國立高雄大學圖資館 |

Language: English

Back

Inherited neurological disordersdiag...

SpringerLink (Online service)

Inherited neurological disordersdiagnosis and case study /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Inherited neurological disordersedited by Zhi-Ying Wu.
Reminder of title:	diagnosis and case study /
other author:	Wu, Zhi-Ying.
Published:	Singapore :Springer Singapore :2017.
Description:	v, 147 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Nervous systemDiseases
Online resource:	http://dx.doi.org/10.1007/978-981-10-4196-9
ISBN:	9789811041969$q(electronic bk.)

Inherited neurological disordersdiagnosis 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$q(electronic bk.)

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

302262
Nervous system
--Diseases

LC Class. No.: RC346.4

Dewey Class. No.: 616.80442

Inherited neurological disordersdiagnosis and case study /
LDR:02897nmm a2200313 a 4500 001 520445
003 DE-He213
005 20180207094545.0
006 m d
007 cr nn 008maaau
008 180425s2017 si s 0 eng d
020 $a 9789811041969$q(electronic bk.)
020 $a 9789811041952$q(paper)
024 7 $a 10.1007/978-981-10-4196-9 $2 doi
035 $a 978-981-10-4196-9
040 $a GP $c GP
041 0 $a eng
050 4 $a RC346.4
072 7 $a MJN $2 bicssc
072 7 $a MED056000 $2 bisacsh
082 0 4 $a 616.80442 $2 23
090 $a RC346.4 $b .I55 2017
245 0 0 $a Inherited neurological disorders $h [electronic resource] : $b diagnosis and case study / $c edited by Zhi-Ying Wu.
260 $a Singapore : $b Springer Singapore : $b Imprint: Springer, $c 2017.
300 $a v, 147 p. : $b ill. (some col.), digital ; $c 24 cm.
505 0 $a Cerebellar ataxia -- Epileptic attacks related disorders -- Motor neuron related disorders -- Movement disorders -- Ion channel diseases -- Muscle Diseases -- Dementia and psychiatric disorders.
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.
650 0 $a Nervous system $x Diseases $x Genetic aspects. $3 302262
650 1 4 $a Medicine & Public Health. $3 273799
650 2 4 $a Neurology. $3 211583
700 1 $a Wu, Zhi-Ying. $3 789754
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-981-10-4196-9
950 $a Medicine (Springer-11650)