Chorea-acanthocytosis with the ehime-deletion mutation

Neuroacanthocytosis Syndromes

Volumn , Issue , 2005, Pages 39-43

  Ueno, Shu Ichi ^a   Kamae, Kazue ^a   Yamashita, Yoriaki ^b   Maruki, Yoshiko ^a   Tomemori, Yuko ^a   Nakamura, Masayuki ^a   Ikeda, Manabu ^a   Tanabe, Hirotaka ^a   Sano, Akira ^a,c  

^a EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MATSUYAMA RED CROSS HOSPITAL   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 35649021871     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/1-4020-2898-9_5     Document Type: Chapter

References (5)

1. Brin M (1993) Handbook of Clinical Neurology 19:271-299 Elsevier Science Publishers, Amsterdam, The Netherlands.
2. Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nature Genet 28:121-122.
3. Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung W-Y, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH (2000) Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 284:1664-1669.
4. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Nemeth AH, Farrall M, Monaco AP (1997) Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 61:899-908.
5. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance, M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP (2001) A conserved sortingassociated protein is mutant in chorea-acanthocytosis. Nature Genet 28:119-120.