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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1986 1
1987 1
1996 4
1997 3
1998 2
1999 4
2000 2
2001 4
2002 1
2003 2
2004 1
2005 2
2006 1
2012 1
2016 1
2024 0

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31 results

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Page 1
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: ishpekova b. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
Differential diagnosis of scapuloperoneal syndrome.
Milanov I, Ishpekova B. Milanov I, et al. Among authors: ishpekova b. Electromyogr Clin Neurophysiol. 1997 Mar;37(2):73-8. Electromyogr Clin Neurophysiol. 1997. PMID: 9098670
Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Jordanova A, Kargaci V, Kremensky I, Litvinenko I, Uzunova M, Turnev I, Ishpekova B, Herzegfalvi A, Simeonova I, Kalaydjieva L. Jordanova A, et al. Among authors: ishpekova b. Neuromuscul Disord. 2002 May;12(4):378-85. doi: 10.1016/s0960-8966(01)00283-8. Neuromuscul Disord. 2002. PMID: 12062256
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Among authors: ishpekova b. Am J Hum Genet. 2003 Dec;73(6):1423-30. doi: 10.1086/379792. Epub 2003 Nov 6. Am J Hum Genet. 2003. PMID: 14606043 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. Among authors: ishpekova b. Nat Genet. 1996 Oct;14(2):214-7. doi: 10.1038/ng1096-214. Nat Genet. 1996. PMID: 8841199
Differential diagnosis of myasthenic syndromes.
Ishpekova B, Milanov I. Ishpekova B, et al. Electromyogr Clin Neurophysiol. 2001 Jan-Feb;41(1):17-21. Electromyogr Clin Neurophysiol. 2001. PMID: 11234561 Clinical Trial.
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: ishpekova b. Ann Neurol. 1999 Jun;45(6):742-50. Ann Neurol. 1999. PMID: 10360766
31 results