References for Neurogenetic
Disorders

1. Schols, L., et al. Autosomal Dominant Cerebellar Ataxia: Phenotypic Differences in Genetically Defined Subtypes? Annals of Neurology 1997; 42:924-932.
2. Zoghbi, H. Clinical Aspects and Molecular Genetics of Hereditary Ataxias, Course 112, American Academy of Neurology 49th Annual Meeting, April 12-19, 1997.
3. Aminoff, M.J. Polyneuropathy and Mononeuropathy Multiplex. In Electromyography in Clinical Practice, 3rd ed., 289-335. 1998. New York: Churchill Livingstone.
4. Machkhas, H. et al., A Mild Case of Friedreich's Ataxia: Lymphocyte and Sural Nerve Analysis for GAA Repeat Length Reveals Somatic Mosaicism. Muscle & Nerve 1998; 21:390-393.
5. Steinberg, D. Refsum's Disease. In The Metabolic and Molecular Basis of Inherited Disease, 7th ed., Vol II, ed. C.R. Scriver et al., 2351-2369. 1995. New York: McGraw-Hill.
6. Watkins, P.A. and Mihalik, S. Refsum's Disease. In The Molecular and Genetic Basis of Neurological Disease, 2nd ed., ed. R.N. Rosenberg et al., 315-320. 1997. Boston: Butterman-Heineman.
7. Moser, H.W. Peroxisomal Disorders. In The Molecular and Genetic Basis of Neurological Disease, 2nd ed., ed. R.N. Rosenberg et al., 273-297. 1997. Boston: Butterman-Heineman.
8. Asbury, A.K. Diseases of the Peripheral Nervous System. In Harrison's Principles of Internal Medicine, 13th ed., ed. K.J. Isselbacher et al., 2368-2378. 1994. New York: McGraw-Hill, Inc.
9. Lyon, G. et al., Childhood and Adolescent Hereditary Metabolic Disorders. In Neurology of Hereditary Metabolic Diseases of Children, 2nd ed., ed. G. Lyon et al., 177-281. 1996. New York: McGraw-Hill.
10. Shoffner, J.M. and Wallace, D.C. Oxidative Phosphorylation Disease. In The Metabolic and Molecular Basis of Inherited Disease, 7th ed., Vol I, ed. C.R. Scriver et al., 1535-1609. 1995. New York: McGraw-Hill.
11. Shulman, L.M. and Weiner, W.J. Chorea. In Current Diagnosis in Neurology, ed. E. Feldmann. 366-372. 1994. St. Louis: Mosby.
12. Harding, A.E. Movement disorders: Genetic aspects. In Movement Disorders, ed. C.D. Morsden and S. Fahn, 46-64. 1994. Oxford: Butterworth-Heinemann.
13. Ozelius, L.J., et al., The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genetics 1997; 17:40-48.
14. Haslam, R.H.A. The Nervous System. In Nelson Textbook of Pediatrics, 15th ed., ed. W.E. Nelson et al., 1709-1712. 1996. Philadelphia: W.B. Saunders Company.
15. Crawford, T.O. and Pardo, C.A. The Neurobiology of Childhood Spinal Muscular Atrophy. Neurobiology of Disease 1996; 3:97-110.
16. Muscular Dystrophy Association. Spinal Muscular Atrophy. www.mdausa.org/publications/fa-sma-qa.html. 1999.
17. Muscular Dystrophy Association. Amyotrophic Lateral Sclerosis. www.mdausa.org/publications/fa-als-qa.html.1999.
18. Gnecchi-Ruscone, T. et al., Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? Muscle & Nerve 1999; 22(11):1549-1556.
19. Darras, B.T. Molecular genetics of Duchenne and Becker muscular dystrophy. The Journal of Pediatrics 1990; 117:1-15.
20. Kissel, J.T. Fascioscapulohumeral Dystrophy. Seminars in Neurology 1999; 19(1):35-43.
21. Howell, R.R. Defects in Metabolism of Purines and Pyrimidines. In Nelson Textbook of Pediatrics, 15th ed., ed. W.E. Nelson et al., 405-411. 1996. Philadelphia: W.B. Saunders Company.
22. Blumen, S.C. et al., Homozygotes for Oculopharyngeal Muscular Dystrophy Have a Severe Form of the Disease. Annals of Neurology 1999; 46:115-118.
23. Lehesjoki, A. et al., Progressive Myoclonus Epilepsy of Unverricht-Lundborg Type. Epilepsia 1999; 40(suppl. 3):23-28.
24. Mitsumoto, H. Disorders of the Upper and Lower Motor Neurons. In Neurology in Clinical Practice, 3rd ed., Vol II, ed. W.G. Bradley et al., 1985-2018. 2000. Boston: Butterworth-Heinemann.
25. Adams, C. Myotonic Dystrophy. www.geneclinics.org/profiles/myotonic-d/details.html. 1999.
26. Evans, O.B. et al., Inborn Errors of Metabolism of the Nervous System. In Neurology in Clinical Practice, 3rd ed., ed. W.G. Bradley et al., 1595-1664. 2000. Boston: Butterworth-Heinemann.
27. Riley, D.E. and Lang, A.E. Movement Disorders. In Neurology in Clinical Practice, 3rd ed., Vol II, ed. W.G. Bradley et al., 1889-1930. 2000. Boston: Butterworth-Heinemann.
28. Epilepsy Foundation. www.efa.org/education/facts.html. 2000.
29. Penn, A.S. Myoglobinuria. In Myology: Basic and Clinical, 2nd ed., Vol 2, ed. A.G. Engel and C. Franzini-Armstrong, 1679-1696. 1994. New York: McGraw-Hill, Inc.
30. Hirschhorn, R. Glycogen Storage Disease Type II: Acid -Glucosidase (Acid Maltase) Deficiency. In The Metabolic and Molecular Bases of Inherited Disease, 7th ed., C.R. Scriver et al., 2443-2464. 1995. NewYork: McGraw-Hill, Inc.
31. Di Donato, S. Disorders of Lipid Metabolism Affecting Skeletal Muscle: Carnitine Deficiency Syndromes, Defects in the Catabolic Pathway, and Chanarin Disease. In Myology: Basic and Clinical, 2nd ed., Vol II, ed. A.G. Engel et al., 1587-1609. 1994. New York: McGraw-Hill, Inc.
32. Rowland, L.P. Mitochondrial encephalomyopathies: lumping, splitting and melding. In Mitochondrial Disorders in Neurology, ed. A.H.V. Schapira and S. DiMauro, 116-129. 1994. Boston: Butterworth Heinemann.
33. Wood, N.W. and Harding, A.E. Cerebellar and Spinocerebellar Disorders. In Neurology in Clinical Practice, 3rd ed., Vol II, ed. W.G. Bradley et al., 1931-1951. 2000. Boston: Butterworth-Heinemann.
34. Brooke, M.H. Disorders of Skeletal Muscle. In Neurology in Clinical Practice, 3rd ed., Vol II, ed. W.G. Bradley et al., 2187-2235. 2000. Boston: Butterworth-Heinemann.
35. Morgan-Hughes, J.A. Mitochondrial Diseases. In Myology: Basic and Clinical, 2nd ed., Vol 2, ed. A.G. Engel and C. Franzini-Armstrong, 1610-1660. 1994. New York: McGraw-Hill, Inc.
36. Mengfatt, H. et al., A Novel Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy. Annals of Neurology 2002; 51:129-133.
37. Larkin K, et al. Myotonic Dystrophy - a multigene disorder. Brain Research Bulletin, 2001; 56:389-395.
38. Liquori CL, et al. Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9. Science, 2001; 293: 864-867.
39. Tapscott SJ. Deconstructing Myotonic Dystrophy. Science, 2000; 289:1701-1702.
40. Fink, J.K., Hereditary spastic paraplegia. Emery and Rimoin's Principles and Practice of Medical Genetics. ed Rimoin, D et al., 3124-3145, 2001. London: Churchill Livingston.
41. Tessa, A. et al., SPG3A: An additional family carrying a new atlastin mutation. Neurology
2002; 59:2002-2005.
42. Zhao, X. et al., Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nature Genetics 2001; 29:326-331.
43. Osborne, J.P. et al., Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615:125-7
44. Northrup, H. et al., Tuberous Sclerosis Complex. www.Geneclinics.org. 2002
45. Sparagana, S.P. et al., Tuberous sclerosis Complex. Current Opinion in Neurology 2000; 13:115-9