Boryana Ishpekova
Medical University of Sofia(BG)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, RNA regulation and disease, Genetic Associations and Epidemiology
Most-Cited Works
- → Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24(1996)185 cited
- → Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia(2012)129 cited
- → Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations(1999)55 cited
- → Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease(2003)50 cited
- → Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries(2000)23 cited
- → Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy(2016)17 cited
- → Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)(2006)16 cited