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Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK. Kalaydjieva L, et al. Brain. 1998 Mar;121 ( Pt 3):399-408. doi: 10.1093/brain/121.3.399. Brain. 1998. PMID: 9549516
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Tournev I, et al. Among authors: kalaydjieva l. Ann Neurol. 1999 Jun;45(6):742-50. Ann Neurol. 1999. PMID: 10360766
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: kalaydjieva l. 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.
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. Nat Genet. 1996 Oct;14(2):214-7. doi: 10.1038/ng1096-214. Nat Genet. 1996. PMID: 8841199
169 results