Batten Disease: Diagnosis, Treatment, and Research
- 1st Edition, Volume 45 - February 2, 2012
- Editors: Jeffrey C. Hall, Krystyna E. Wisniewski, Jay C. Dunlap, Nanbert Zhong, Theodore Friedmann, Francesco Giannelli
- Language: English
- Paperback ISBN:9 7 8 - 0 - 1 2 - 4 1 1 2 1 4 - 8
- eBook ISBN:9 7 8 - 0 - 0 8 - 0 4 9 0 3 1 - 1
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… Read more
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.
Molecular geneticists, clinical geneticists, neurologists, neuroscientists, pediatricians, molecular biologists, and biochemists.
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.
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.
- Edition: 1
- Volume: 45
- Published: February 2, 2012
- Language: English
JH
Jeffrey C. Hall
Affiliations and expertise
Brandeis University, Waltham, MA, USAKW
Krystyna E. Wisniewski
Affiliations and expertise
George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.JD
Jay C. Dunlap
Affiliations and expertise
The Geisel School of Medicine, Dartmouth, NH, USANZ
Nanbert Zhong
Affiliations and expertise
George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.TF
Theodore Friedmann
School of Medicine, University of California at San Diego, USA
Affiliations and expertise
School of Medicine, University of California at San Diego, USAFG
Francesco Giannelli
Affiliations and expertise
United Medical and Dental Schools of Guy’s and St. Thomas’ Hospitals, London, U.K.Read Batten Disease: Diagnosis, Treatment, and Research on ScienceDirect