Diseases of DNA Repair

1. Triple-A Syndrome
Vijaya Sarathi, Nalini S. Shah

2. Amyotrophic Lateral Sclerosis
J. Jefferson P. Perry, David S. Shin, John A. Tainer

3. Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia
Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi, Osamu Onodera

4. Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA
Michelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaro, Gabriele Siciliano

5. Huntington’s Disease
Emmanuel Roze, Cecilia Bonnet, Sandrine Betuing, Jocelyne Caboche

6. Clinical Features and Molecular Mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA)
Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Fumiaki Tanaka, Gen Sobue

7. Spinocerebellar Ataxia with Axonal Neuropathy
Cheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A. M. Salih, Hiroshi Takashima, Cornelius F. Boerkoel

8. Tuberous Sclerosis Complex and DNA Repair
Samy L. Habib

9. Hereditary Photodermatoses
Dennis H. Oh, Graciela Spivak

10. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome
W. Clark Lambert, Claude E. Gagna, Muriel W. Lambert

11. Cornelia de Lange Syndrome
Jinglan Liu, Gareth Baynam

12. Rectal Cancer and Importance of Chemoradiation in the Treatment
Sergio Huerta

13. Familial Cutaneous Melanoma
Johan Hansson

14. Primary Immunodeficiency Syndromes
Mary A. Slatter, Andrew R. Gennery

15. Inherited Defects of Immunoglobulin Class Switch Recombination
Sven Kracker, Pauline Gardës, Anne Durandy

16. Ligase IV Syndrome
Dimitry A. Chistiakov

17. Muir-Torre Syndrome
Pedro Mercader

18. Wilms’ Tumor
Carlos H. Martínez, Sumit Dave, Jonathan Izawa

19. Cerebro-Oculo-Facio-Skeletal Syndrome
Hiroshi Suzumura, Osamu Arisaka

20. Dyskeratosis Congenita
Vineeta Gupta, Akash Kumar

21. Retinoblastoma
Dietmar Lohmann

22. Von Hippel Lindau Syndrome
Jenny J. Kim, Brian I. Rini, Donna E. Hansel

Keywords: Biomedicine, Human Genetics, Biomedicine general