|
Metabolic disease (inherited)
Citations 101-110 of 116 total displayed.
|
Past content
(since Jul 2001):
|
- ARTICLES
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia
- K. E. Peltola, S. Jääskeläinen, O. J. Heinonen, B. Falck, K. Näntö–Salonen, K. Heinänen, and O. Simell
Neurology 2002; 59: 735-740.
[Abstract]
[Full text]
[PDF]
- VIEWS & REVIEWS
The neurogenetics of mucolipidosis type IV
- G. Altarescu, M. Sun, D. F. Moore, J. A. Smith, E. A. Wiggs, B. I. Solomon, N. J. Patronas, K. P. Frei, S. Gupta, C. R. Kaneski, O. W. Quarrell, S. A. Slaugenhaupt, E. Goldin, and R. Schiffmann
Neurology 2002; 59: 306-313.
[Abstract]
[Full text]
[PDF]
- ARTICLES
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency
- J. Takanashi, A. Kurihara, M. Tomita, M. Kanazawa, S. Yamamoto, F. Morita, H. Ikehira, S. Tanada, and Y. Kohno
Neurology 2002; 59: 210-214.
[Abstract]
[Full text]
[PDF]
- ARTICLES
Clinicopathological features of genetically confirmed Danon disease
- K. Sugie, A. Yamamoto, K. Murayama, S. J. Oh, M. Takahashi, M. Mora, J. E. Riggs, J. Colomer, C. Iturriaga, A. Meloni, C. Lamperti, S. Saitoh, E. Byrne, S. DiMauro, I. Nonaka, M. Hirano, and I. Nishino
Neurology 2002; 58: 1773-1778.
[Abstract]
[Full text]
[PDF]
- BRIEF COMMUNICATIONS
HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration
- K. H.L. Ching, S. K. Westaway, J. Gitschier, J. J. Higgins, and S. J. Hayflick
Neurology 2002; 58: 1673-1674.
[Abstract]
[Full text]
[PDF]
- EDITORIALS
Intermediate filament proteinopathies: From cytoskeletons to genes to functional nosology
- William D. Graf and Harvey B. Sarnat
Neurology 2002; 58: 1451-1453.
[Full text]
[PDF]
- ARTICLES
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
- J. R. Gorospe, S. Naidu, A. B. Johnson, V. Puri, G. V. Raymond, S. D. Jenkins, R. C. Pedersen, D. Lewis, P. Knowles, R. Fernandez, D. De Vivo, M. S. van der Knaap, A. Messing, M. Brenner, and E. P. Hoffman
Neurology 2002; 58: 1494-1500.
[Abstract]
[Full text]
[PDF]
- ARTICLES
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation
- H. Miyajima, S. Kono, Y. Takahashi, M. Sugimoto, M. Sakamoto, and N. Sakai
Neurology 2001; 57: 2205-2210.
[Abstract]
[Full text]
[PDF]
- ARTICLES
ABCD1 translation–initiator mutation demonstrates genotype–phenotype correlation for AMN
- Gilmore N. O’Neill, Masashi Aoki, and Robert H. Brown, Jr.
Neurology 2001; 57: 1956-1962.
[Abstract]
[Full text]
[PDF]
- CLINICAL/SCIENTIFIC NOTES
L-2-hydroxyglutaric aciduria presenting as migraine
- Eric H. Kossoff, Sanjay C. Keswani, and Gerald V. Raymond
Neurology 2001; 57: 1731-1732.
[Full text]
[PDF]
|
|
