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Page 1
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Kalaydjieva L, et al. Among authors: chandler d. Nat Genet. 1996 Oct;14(2):214-7. doi: 10.1038/ng1096-214. Nat Genet. 1996. PMID: 8841199
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. Kalaydjieva L, et al. Among authors: chandler d. Am J Hum Genet. 2000 Jul;67(1):47-58. doi: 10.1086/302978. Epub 2000 May 30. Am J Hum Genet. 2000. PMID: 10831399 Free PMC article.
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. Hantke J, et al. Among authors: chandler d. Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17. Eur J Hum Genet. 2009. PMID: 19536174 Free PMC article.
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Chandler D, et al. Neuromuscul Disord. 2000 Dec;10(8):584-91. doi: 10.1016/s0960-8966(00)00148-6. Neuromuscul Disord. 2000. PMID: 11053686 Free article.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: chandler d. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.
890 results