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. 1995 Oct;59(4):449–450. doi: 10.1136/jnnp.59.4.449

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany.

L Schöls, G Amoiridis, M Langkafel, T Büttner, H Przuntek, O Riess, A M Vieira-Saecker, J T Epplen
PMCID: PMC486089  PMID: 7561932

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arden G. B., Barrada A., Kelsey J. H. New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol. 1962 Aug;46(8):449–467. doi: 10.1136/bjo.46.8.449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barczak P., Edmunds E., Betts T. Hypomania following complex partial seizures. A report of three cases. Br J Psychiatry. 1988 Jan;152:137–139. doi: 10.1192/bjp.152.1.137. [DOI] [PubMed] [Google Scholar]
  3. Benzer A., Mitterschiffthaler G., Marosi M., Luef G., Pühringer F., De La Renotiere K., Lehner H., Schmutzhard E. Prediction of non-survival after trauma: Innsbruck Coma Scale. Lancet. 1991 Oct 19;338(8773):977–978. doi: 10.1016/0140-6736(91)91840-q. [DOI] [PubMed] [Google Scholar]
  4. Byrne A. Hypomania following increased epileptic activity. Br J Psychiatry. 1988 Oct;153:573–574. doi: 10.1192/bjp.153.4.573. [DOI] [PubMed] [Google Scholar]
  5. HILL D., POND D. A., MITCHELL W., FALCONER M. A. Personality changes following temporal lobectomy for epilepsy. J Ment Sci. 1957 Jan;103(430):18–27. doi: 10.1192/bjp.103.430.18. [DOI] [PubMed] [Google Scholar]
  6. Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221–228. doi: 10.1038/ng1194-221. [DOI] [PubMed] [Google Scholar]
  7. Mace C. J., Trimble M. R. Psychosis following temporal lobe surgery: a report of six cases. J Neurol Neurosurg Psychiatry. 1991 Jul;54(7):639–644. doi: 10.1136/jnnp.54.7.639. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Ommaya A. K., Gennarelli T. A. Cerebral concussion and traumatic unconsciousness. Correlation of experimental and clinical observations of blunt head injuries. Brain. 1974 Dec;97(4):633–654. doi: 10.1093/brain/97.1.633. [DOI] [PubMed] [Google Scholar]
  9. Rosenberg R. N. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 1992;7(3):193–203. doi: 10.1002/mds.870070302. [DOI] [PubMed] [Google Scholar]
  10. Stevanin G., Le Guern E., Ravisé N., Chneiweiss H., Dürr A., Cancel G., Vignal A., Boch A. L., Ruberg M., Penet C. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994 Jan;54(1):11–20. [PMC free article] [PubMed] [Google Scholar]
  11. Sudarsky L., Corwin L., Dawson D. M. Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. Mov Disord. 1992;7(3):204–208. doi: 10.1002/mds.870070303. [DOI] [PubMed] [Google Scholar]
  12. Takiyama Y., Ikemoto S., Tanaka Y., Mizuno Y., Yoshida M., Yasuda N. A large Japanese family with Machado-Joseph disease: clinical and genetic studies. Acta Neurol Scand. 1989 Mar;79(3):214–222. doi: 10.1111/j.1600-0404.1989.tb03741.x. [DOI] [PubMed] [Google Scholar]
  13. Takiyama Y., Oyanagi S., Kawashima S., Sakamoto H., Saito K., Yoshida M., Tsuji S., Mizuno Y., Nishizawa M. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 1994 Jul;44(7):1302–1308. doi: 10.1212/wnl.44.7.1302. [DOI] [PubMed] [Google Scholar]

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