Online Mendelian Inheritance in Man (OMIM) (original) (raw)
- Gascon, G. G., Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T.Familial childhood primary lateral sclerosis with associated gaze paresis. Neuropediatrics 26: 313-319, 1995. [PubMed: 8719747] [Full Text: https://doi.org/10.1055/s-2007-979781\]
- Grunnet, M. L., Leicher, C., Zimmerman, A., Zalneraitis, E., Barwick, M.Primary lateral sclerosis in a child. Neurology 39: 1530-1532, 1989. [PubMed: 2812336] [Full Text: https://doi.org/10.1212/wnl.39.11.1530\]
- Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., and 9 others.A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet. 29: 166-173, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001. [PubMed: 11586298] [Full Text: https://doi.org/10.1038/ng1001-166\]
- Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M.Infantile onset of hereditary ascending spastic paralysis with bulbar involvement. J. Child. Neurol. 11: 54-57, 1996. [PubMed: 8745388] [Full Text: https://doi.org/10.1177/088307389601100114\]
- Mintchev, N., Zamba-Papanicolaou, E., Kleopa, K. A., Christodoulou, K.A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. Neurology 72: 28-32, 2009. [PubMed: 19122027] [Full Text: https://doi.org/10.1212/01.wnl.0000338530.77394.60\]
- Pringle, C. E., Hudson, A. J., Munoz, D. G., Kiernan, J. A., Brown, W. F., Ebers, G. C.Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria. Brain 115: 495-520, 1992. [PubMed: 1606479] [Full Text: https://doi.org/10.1093/brain/115.2.495\]
- Shaw, P. J.Genetic inroads in familial ALS. Nature Genet. 29: 103-104, 2001. [PubMed: 11586285] [Full Text: https://doi.org/10.1038/ng1001-103\]
- Sotaniemi, K. A., Myllyla, V. V.Primary lateral sclerosis: a debated entity. Acta Neurol. Scand. 71: 334-336, 1985. [PubMed: 4003039] [Full Text: https://doi.org/10.1111/j.1600-0404.1985.tb03210.x\]
- Stark, F. M., Moersch, F. P.Primary lateral sclerosis: a distinct clinical entity. J. Nerv. Ment. Dis. 102: 332-337, 1945.
- Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T.The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001. [PubMed: 11586297] [Full Text: https://doi.org/10.1038/ng1001-160\]
- Younger, D. S., Chou, S., Hays, A. P., Lange, D. J., Emerson, R., Brin, M., Thompson, H., Jr., Rowland, L. P.Primary lateral sclerosis: a clinical diagnosis reemerges. Arch. Neurol. 45: 1304-1307, 1988. [PubMed: 3196189] [Full Text: https://doi.org/10.1001/archneur.1988.00520360022005\]