Saltar al contenido principal
Elsevier

Batten Disease: Diagnosis, Treatment, and Research

  • 1 Edición, Volumen 45 - 23 de abril de 2001
  • Última edición
  • Editores: Jeffrey C. Hall, Krystyna E. Wisniewski, Nanbert Zhong, Jay C. Dunlap, Theodore Friedmann, Francesco Giannelli
  • Idioma: Inglés

This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic… Leer más

Descripción

This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

De interès para

Molecular geneticists, clinical geneticists, neurologists, neuroscientists, pediatricians, molecular biologists, and biochemists.

Índice

Contributors.
Preface.
Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis, K.E. Wisniewski, E. Kida, A.A. Golabek, W. Kaczmarski, F. Connell, and N. Zhong.
Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses, E. Kida, A.A. Golabek, and K.E. Wisniewski.
Positional Candidate Gene Cloning of CLN1S.L. Hofmann, A.K. Das, J.-Y. Lu, and A.A. Soyombo.
Biochemistry of Neuronal Ceroid Lipofuscinoses, M.A. Junaid and R.K. Pullarkat.
Positional Cloning of the JNCL Gene, CLN3, T.J. Lerner.
Studies of Homogenous Populations: CLN5 and CLN8, S. Ranta, M. Savukoski, P. Santavuori, and M. Haltia.
Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses, N. Zhong.
Genetic Counseling in the Neuronal Ceroid Lipofuscinoses, S.S. Brooks.
Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinoses, J.D. Cooper and W.C. Mobley.
Animal Models for the Ceroid Lipofuscinoses, M.L. Katz, H. Shibuya, and G.S. Johnson.
Experimental Models of NCL: The Yeast Model, D.A. Pearce.
Outlook for Future Treatment, N. Zhong and K.E. Wisniewski.
Appendix: Batten Support Groups.
Index.

Reseñas

"This book will be of interest to many different readers: clinical geneticists who want an overview of a difficult area; paediatric neurologists who need updating on the advances in molecular genetics of the NCLs; lysosomal cell biologists interested in a new angle on their favourite organelle; neurobiologists and neuropathologists interested in a less well known group of neurodegenerative diseases. For researchers in the field it is a handy reference volume."—M. Gardiner, University College London, in HUMAN GENETICS (2001)

Detalles del producto

  • Edición: 1
  • Última edición
  • Volumen: 45
  • Publicado: 23 de abril de 2001
  • Idioma: Inglés

Sobre los editores

JH

Jeffrey C. Hall

Afiliaciones y experiencia
Brandeis University, Waltham, MA, USA

KW

Krystyna E. Wisniewski

Afiliaciones y experiencia
George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.

NZ

Nanbert Zhong

Afiliaciones y experiencia
George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.

JD

Jay C. Dunlap

Afiliaciones y experiencia
The Geisel School of Medicine, Dartmouth, NH, USA

TF

Theodore Friedmann

School of Medicine, University of California at San Diego, USA
Afiliaciones y experiencia
School of Medicine, University of California at San Diego, USA

FG

Francesco Giannelli

Afiliaciones y experiencia
United Medical and Dental Schools of Guy’s and St. Thomas’ Hospitals, London, U.K.

Ver libro en ScienceDirect

Lee Batten Disease: Diagnosis, Treatment, and Research en ScienceDirect