Handbook of ataxia disorders
著者
書誌事項
Handbook of ataxia disorders
(Neurological disease and therapy, v. 50)
Marcel Dekker, c2000
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
This timely reference presents, for the first time, new findings in molecular genetics that are applicable to the epidemiology, pathogenesis, neuropathology, clinical features, and management of ataxia-bridging the gap between scientific and clinical practice.
Organized by the distinctive ataxia disorders, their pathogenesis, and management-facilitating quick and efficient diagnoses!
Providing complementary sections on the anatomy of the spinocerebellar system, its normal function, and a history of ataxia research and management, the Handbook of Ataxia Disorders
clarifies the impact of identifying the molecular causes of ataxia
offers in-depth analysis of dominant and recessive and nonhereditary ataxia disorders
explores the vital connection between the genotypes and phenotypes of various degenerative ataxia disorders
and more!
Written by more than 60 international experts and supplemented with over 2600 literature references, photographs, micrographs, drawings, and tables, the Handbook of Ataxia Disorders is an essential and useful reference for clinical neurologists and neuropathologists, neuropediatricians, geneticists, physiatrists, and medical school students in these disciplines.
目次
Introduction
Functional Architecture of the Cerebellar System
Fahad Sultan, Martin Moeck, and Peter Thier
Normal Functions of the Cerebellum
Helge Topka
History of Ataxia Research
Jose Berciano, Julio Pascual, and Jose M. Polo
Clinical Approach to Ataxic Patients
Thomas Klockgether
Developmental Disorders
Cerebellar Malformations
Vincent T. Ramaekers
Autosomal Recessive Ataxias
Friedreich's Ataxia
Michel Koenig and Alexandra Durr
Ataxia-Telangiectasia
Nada Jabado, Patrick Concannon, and Richard A. Gatti
Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes
Alessandro Filla and Giuseppe De Michele
Abetalipoproteinemia
Alfried Kohlschutter
Ataxia with Isolated Vitamin E Deficiency
Michel Koenig
Heredopathia Atactica Polyneuritiformis: Refsum's Disease
Frederick B. Gibberd and Anthony S. Wierzbicki
Cerebrotendinous Xanthomatosis
Vardiella Meiner and Eran Leitersdorf
Ataxias Associated with Rare Metabolic Disorders
Eugen Boltshauser
Infantile-Onset Spinocerebellar Ataxia
Tuula Loennqvist, Anders Paetau, Helena Pihko, and Kaisu Nikali
Autosomal Recessive Spastic Ataxia (Charlevoix-Saguenay)
Jean-Pierre Bouchard, Andrea Richter, Serge B. Melancon, Jean Mathieu, and Jean Michaud
Mitochondrial Disorders
Ataxia in Mitochondrial Disorders
Heinz Reichmann
Autosomal Dominant Ataxias
Spinocerebellar Ataxia Type 1
Harry T. Orr and Thomas Klockgether
Spinocerebellar Ataxia Type 2
Katrin Burk and Johannes Dichgans
Spinocerebellar Ataxia Type 3
Ludger Schoels, Henry Paulson, and Olaf Riess
Spinocerebellar Ataxia Type 4
Ying-Hui Fu, Michael Abele, and Louis J. Ptacek
Spinocerebellar Ataxia Type 5
Lawrence J. Schut, John W. Day, H. Brent Clark, Michael D. Koob, and Laura P. W. Ranum
Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6
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