Molecular genetics of neurological and neuromuscular disease / editors, Stefano DiDonato [and others].

Format:

Book

Contributor:

Di Donato, S.

Series:

Advances in neurology ; 0091-3952 v. 48.

Advances in neurology ; v. 48

Language:

English

Subjects (All):

Neuromuscular diseases--Genetic aspects.

Neuromuscular diseases.

Genetic disorders.

Brain Diseases--genetics.

Neuromuscular Diseases--genetics.

Medical Subjects:

Brain Diseases--genetics.

Neuromuscular Diseases--genetics.

Physical Description:

xix, 268 pages : illustrations ; 24 cm.

Place of Publication:

New York : Raven Press, [1988]

Contents:

Impact of molecular genetics on clinical neurology

Molecular genetic strategies to investigate Huntington's disease

X-linked muscular dystrophies: studies through functional assay and DNA polymorphisms

Inherited ataxias

Genetic and physical demarcation of the locus for dystrophia myotonica

Toward a molecular understanding of ornithine transcarbamylase deficiency

DMD carrier detection and prenatal diagnosis via recombinant DNA methods

Biochemical and molecular aspects of cytochrome C oxidase deficiency

Molecular basis of isovaleric acidemia and the study of the acyl-CoA dehydrogenase family

Inherited neuropathies related to disorders of lipid metabolism

Genetic strategies for neuromuscular diseases

Insulin receptors in Friedreich's ataxia: studies on cultured fibroblasts

Constructing a complete restriction map of human chromosome 19

DNA and multiple sclerosis, inherited ataxias, and spastic prarapareses

Cytogenetic analysis and response to ionizing radiations in a girl with severer muscular dystrophy

Transthyretin (prealbumin) in familial amyloidotic polyneuropathy: genetic and functional aspects

Discrimination of peripheral polyneuropathies caused by TTR variant or diabetes in the same pedigree through protein studies

Heterogeneity of Charcot-Marie-tooth disease suggested by a linkage study

Purification and properties os short-chain acyl-CoA, medium-chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver

Assay of acyl-CoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehyrogenase deficiency associated with systemic canitine deficiency

Immunological and biochemical studies and pilot therapeutic trial with ubidecarenone in Kearns-Sayre patients

Attempts to identify the chromosomal localization of the Friedreich's ataxia locus.

Notes:

Includes bibliographical references and index.

Other Format:

Online version: Molecular genetics of neurological and neuromuscular disease.

ISBN:

088167334X

9780881673340

OCLC:

16088576