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1

Peripheral nerve ultrasonography in patients with transthyretin amyloidosis

Podnar, Simon, Sarafov, Stayko, Tournev, Ivailo, Omejec, Gregor, Zidar, Janez

Journal:

Clinical Neurophysiology

Year:

2017

Language:

english

File:

PDF, 690 KB

english, 2017

2

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Palaima, Paulius, Chamova, Teodora, Jander, Sebastian, Mitev, Vanyo, Van Broeckhoven, Christine, Tournev, Ivailo, Peeters, Kristien, Jordanova, Albena

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

3

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

Kalaydjieva, Luba, Calafell, Francesc, Jobling, Mark A, Angelicheva, Dora, de Knijff, Peter, Rosser, Zoë H, Hurles, Matthew E, Underhill, Peter, Tournev, Ivailo, Marushiakova, Elena

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 236 KB

english, 2001

4

Description of the first two cases of Pompe disease in Bulgaria

I Tournev, T Chamova, I Sinigerska, V Guergueltcheva…

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

5

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

Adams, David, Gonzalez-Duarte, Alejandra, O’Riordan, William D., Yang, Chih-Chao, Ueda, Mitsuharu, Kristen, Arnt V., Tournev, Ivailo, Schmidt, Hartmut H., Coelho, Teresa, Berk, John L., Lin, Kon-Ping,

Journal:

New England Journal of Medicine

Year:

2018

Language:

english

File:

PDF, 367 KB

english, 2018

6

Axonal neuropathy with neuromyotonia: there is a HINT

Peeters, Kristien, Chamova, Teodora, Tournev, Ivailo, Jordanova, Albena

Journal:

Year:

2016

Language:

english

File:

PDF, 902 KB

english, 2016

7

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

Dimitar N. Azmanov, Sashka Zhelyazkova, Melania Radionova, Bharti Morar, Dora Angelicheva, Dora Zlatareva, Radka Kaneva, Ivailo Tournev, Luba Kalaydjieva, Josemir W. Sander

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 515 KB

english, 2011

8

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Rossor, A. M., Oates, E. C., Salter, H. K., Liu, Y., Murphy, S. M., Schule, R., Gonzalez, M. A., Scoto, M., Phadke, R., Sewry, C. A., Houlden, H., Jordanova, A., Tournev, I., Chamova, T., Litvinenko,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.74 MB

english, 2015

9

Glu89Gln transthyretin-related amyloidosis in Italy and Bulgaria: does geographic area influence phenotype beyond the shared mutation?

Gagliardi, Christian, Gospodinova, Mariana, Longhi, Simone, Milandri, Agnese, Cinelli, Mario, Tournev, Ivailo, Salvi, Fabrizio, Rapezzi, Claudio

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 262 KB

english, 2015

10

Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Gospodinova, Mariana, Sarafov, Stayko, Guergueltcheva, Velina, Kirov, Andrey, Chamova, Teodora, Todorova, Albena, Tournev, Ivailo, Denchev, Stefan

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

11

ANO10c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

Chamova, Teodora, Florez, Laura, Guergueltcheva, Velina, Raycheva, Margarita, Kaneva, Radka, Lochmüller, Hanns, Kalaydjieva, Luba, Tournev, Ivailo

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

12

A Novel Mutation in ATP7B Gene Associated with Severe Neurological and Psychiatric Symptoms

Mihaylova, V., Todorov, T., Tournev, I., Cherninkova, S., Nikoevski, N., Raicheva, M., Iankova, P., Petrova, I., Savov, A., Kremesky, I.

Journal:

European Neurology

Year:

2006

Language:

english

File:

PDF, 62 KB

english, 2006

13

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Kancheva, Daliya, Atkinson, Derek, De Rijk, Peter, Zimon, Magdalena, Chamova, Teodora, Mitev, Vanyo, Yaramis, Ahmet, Maria Fabrizi, Gian, Topaloglu, Haluk, Tournev, Ivailo, Parma, Yesim, Battaloglu, E

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 990 KB

english, 2015

14

Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease

V. Mihaylova, J. Hantke, S. Cherninkova, S. Krastev, M. Radionova, M. Raicheva, I. Sinigerska, H. Jelev, A. Jablensky, L. Kalaydjieva, I. Tournev

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008

15

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

Peeters, Kristien, Bervoets, Sven, Chamova, Teodora, Litvinenko, Ivan, De Vriendt, Els, Bichev, Stoyan, Kancheva, Dahlia, Mitev, Vanyo, Kennerson, Marina, Timmerman, Vincent, De Jonghe, Peter, Tournev

Journal:

Year:

2015

Language:

english

File:

PDF, 555 KB

english, 2015

16

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

Kamenarova, Kunka, Cherninkova, Sylvia, Romero Durán, Margarita, Prescott, DeQuincy, Valdés Sánchez, Maria Lourdes, Mitev, Vanio, Kremensky, Ivo, Kaneva, Radka, Bhattacharya, Shomi S, Tournev, Ivailo,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.46 MB

english, 2013

17

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Craig L. Bennett, Andrew J. Shirk, Huy M. Huynh, Valerie A. Street, Eva Nelis, Lionel Van Maldergem, Peter De Jonghe, Albena Jordanova, Velina Guergueltcheva, Ivailo Tournev, Peter Van den Bergh, Pave

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 985 KB

english, 2004

18

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

Borian T. Buzhov, Richard J. L. F. Lemmers, Ivailo Tournev, Chayka Dikova, Ivo Kremensky, Julia Petrova, Rune R. Frants, Silvère M. van der Maarel

Journal:

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

19

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

N Ivanova, A Löfgren, I Tournev, R Rousev, A Andreeva, A Jordanova, V Georgieva, T Deconinck, V Timmerman, I Kremensky, P De Jonghe, V Mitev

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

20

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

P Sivadorai, S Cherninkova, S Bouwer, K Kamenarova, D Angelicheva, P Seeman, K Hollingsworth, V Mihaylova, A Oscar, G Dimitrova, R Kaneva, I Tournev, L Kalaydjieva

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

21

Founder effect of the Glu89Gln TTR mutation in the Bulgarian population

Kirov, Andrey, Sarafov, Stayko, Pavlova, Zornitza, Todorov, Tihomir, Chamova, Teodora, Gospodinova, Mariana, Tournev, Ivailo, Mitev, Vanyo, Todorova, Albena

Journal:

Year:

2019

Language:

english

File:

PDF, 996 KB

english, 2019

22

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

Kancheva, Dahlia, Chamova, Teodora, Guergueltcheva, Velina, Mitev, Vanio, Azmanov, Dimitar N., Kalaydjieva, Luba, Tournev, Ivailo, Jordanova, Albena

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

23

Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience

Chamova, T., Taneva, A., Sinigerska, I., Gospodinova, M., Bojinova, V., Genov, K., Staykov, I., Dimitrova, H., Bogdanova, D., Kaprelyan, A., Todorov, T., Todorova, A., Tournev, I.

Journal:

Journal of the Neurological Sciences

Year:

2019

File:

PDF, 244 KB

2019

24

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

Thomas, Florian P., Guergueltcheva, Velina, Gondim, Francisco A. A., Tournev, Ivailo, Rao, Chitharanjan V., Ishpekova, Boryana, Kinsella, Laurence J., Pan, Yi, Geller, Thomas J., Litvinenko, Ivan, De

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 818 KB

english, 2016

25

Concomitant insulinoma and type 2 diabetes mellitus diagnoses: a case report

Assyov, Yavor, Gateva, Antoaneta, Zaharieva, Emanuela, Tsakova, Adelina, Tournev, Ivailo, Kyoseva, Diana, Bulanov, Dimitar, Arabadjieva, Elena, Dimitrova, Violeta, Krupev, Martin, Kamenov, Zdravko

Journal:

Journal of Diabetes

Year:

2016

Language:

english

File:

PDF, 457 KB

english, 2016

26

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population

Albena Todorova, Angel Ashikov, Olga Beltcheva, Ivailo Tournev, Ivo Kremensky

Journal:

Year:

1999

Language:

english

File:

PDF, 311 KB

english, 1999

27

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nichol

Journal:

Year:

2003

Language:

english

File:

PDF, 199 KB

english, 2003

28

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Zimoń, Magdalena, Baets, Jonathan, Almeida-Souza, Leonardo, De Vriendt, Els, Nikodinovic, Jelena, Parman, Yesim, Battalo[gcaron]lu, Esra, Matur, Zeliha, Guergueltcheva, Velina, Tournev, Ivailo, Auer-G

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 339 KB

english, 2012

29

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.03 MB

english, 2009

30

Origins and Divergence of the Roma (Gypsies)

David Gresham, Bharti Morar, Peter A. Underhill, Giuseppe Passarino, Alice A. Lin, Cheryl Wise, Dora Angelicheva, Francesc Calafell, Peter J. Oefner, Peidong Shen, Ivailo Tournev, Rosario de Pablo, Va

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 170 KB

english, 2001

31

The minus of a plus is a minus. Mass death of selected neuron populations in sporadic late-onset neurodegenerative disease may be due to a combination of subtly decreased capacity to repair oxidative DNA damage and increased propensity for damage-related apoptosis

Petkova, Rumena, Chelenkova, Pavlina, Tournev, Ivaylo, Chakarov, Stoyan

Journal:

Biotechnology & Biotechnological Equipment

Year:

2016

Language:

english

File:

PDF, 742 KB

english, 2016

32

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Adams, David, Suhr, Ole B., Hund, Ernst, Obici, Laura, Tournev, Ivailo, Campistol, Josep M., Slama, Michel S., Hazenberg, Bouke P., Coelho, Teresa

Journal:

Current Opinion in Neurology

Year:

2016

Language:

english

File:

PDF, 423 KB

english, 2016

33

Transthyretin amyloidosis: Testing strategies and model for center of excellence support

Nakov, Radislav, Sarafov, Stayko, Gospodinova, Mariana, Kirov, Andrey, Chamova, Teodora, Todorov, Tihomir, Todorova, Albena, Tournev, Ivailo

Journal:

Clinica Chimica Acta

Year:

2020

File:

PDF, 408 KB

2020

34

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Chamova, T., Taneva, A., Gospodinova, M., Zlatareva, D., Johnson, K., Töpf, A., Straub, V., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

35

The fine art of vascular wall maintenance. Carriership of XPC, TP53 and APOE polymorphisms may be a risk factor for cerebral vascular accidents in the Bulgarian population

Chelenkova, Pavlina, Petkova, Rumena, Chamova, Teodora, Zhelyazkova, Sashka, Tournev, Ivaylo, Chakarov, Stoyan

Journal:

Biotechnology & Biotechnological Equipment

Year:

2018

File:

PDF, 1.14 MB

2018

36

ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress

Vrijsen, Stephanie, Besora-Casals, Laura, van Veen, Sarah, Zielich, Jeffrey, Van den Haute, Chris, Hamouda, Norin Nabil, Fischer, Christian, GhesquiÃ¨re, Bart, Tournev, Ivailo, Agostinis, Patrizia, Ba

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 1.43 MB

2020

37

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

Ivailo Tournev, Luba Kalaydjieva, Bryan Youl, Boryana Ishpekova, Velina Guergueltcheva, Ognian Kamenov, Maria Katzarova, Zdravko Kamenov, Margarita Raicheva-Terzieva, R. H. M. King, Kiril Romanski, Ra

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 468 KB

english, 1999

38

Screening for C283Y γ-Sarcoglycan Mutation in a High-Risk Group of Bulgarian Gypsies: Evidence for a Geographical Localization and a Non-Random Distribution among Gypsy Subgroups

Todorova, Albena, Tournev, Ivailo, Ninova, Nadya, Georgieva, Veneta, Kremensky, Ivo

Journal:

Community Genetics

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002

39

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

Todorova, A, Guergueltcheva, V, Genova, J, Mihaylova, V, Todorov, T, Tchamova, T, Georgieva, B, Kremensky, I, Tournev, I, Mitev, V

Journal:

Balkan Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 3.45 MB

english, 2009

40

Risk factors for autonomic and somatic nerve dysfunction in different stages of glucose tolerance

Dimova, Rumyana, Tankova, Tsvetalina, Guergueltcheva, Velina, Tournev, Ivailo, Chakarova, Nevena, Grozeva, Greta, Dakovska, Lilia

Journal:

Journal of Diabetes and its Complications

Year:

2016

Language:

english

File:

PDF, 555 KB

english, 2016

41

Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Chamova, T., Sinigerska, I., Gospodinova, M., Bojinova, V., Guergueltcheva, V., Genov, K., Staykov, I., Dimitrova, H., Bogdanova, D., Kaprelyan, A., Todorov, T., Todorova, A., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

42

C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community

B Georgieva, A Todorova, I Tournev, V Mitev, I Kremensky

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 405 KB

english, 2004

43

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Michael Hunter, Dora Angelicheva, Ivailo Tournev, Evan Ingley, Dick C. Chan, Gerald F. Watts, Ivo Kremensky, Luba Kalaydjieva

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 712 KB

english, 2005

44

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

Borian T. Buzhov, Richard J.L.F. Lemmers, Ivailo Tournev, Michiel J.R. van der Wielen, Boriana Ishpekova, Radoslav Petkov, Julia Petrova, Rune R. Frants, George W. Padberg, Silvère M. van der Maarel

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

45

G.P.237

Peeters, K., Litvinenko, I., Chamova, T., Asselbergh, B., Almeida-Souza, L., Geuens, T., Ydens, E., Zimon, M., Irobi, J., Vriendt, E. De, Winter, V. De, Ooms, T., Timmerman, V., Tournev, I., Jordanova

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

46

Myologie et minorités ethniques

Urtizberea, J. Andoni, Lochmuller, Hanns, Tournev, Ivailo

Journal:

médecine/sciences

Year:

2015

Language:

french

File:

PDF, 5.43 MB

french, 2015

47

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

Janina Hantke, Tamara Rogers, Lisa French, Ivailo Tournev, Velina Guergueltcheva, Jon Andoni Urtizberea, Jaume Colomer, Axinia Corches, Constantin Lupu, Luciano Merlini, P.K Thomas, Luba Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 321 KB

english, 2003

48

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome

I. Tournev, R. H. M. King, J. Workman, M. Nourallah, J. R. Muddle, L. Kalaydjieva, K. Romanski, P. K. Thomas

Journal:

Acta Neuropathologica

Year:

1999

Language:

english

File:

PDF, 365 KB

english, 1999

49

Wilson’s disease in two consecutive generations in a Bulgarian Roma family

V. Mihaylova, T. Todorov, H. Jelev, S. Cherninkova, M. Raycheva, A. Savov, I. Kremensky, I. Tournev

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

50

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

T Todorov, A Savov, H Jelev, E Panteleeva, D Konstantinova, Z Krustev, V Mihaylova, I Tournev, L Tankova, N Tzolova, I Kremensky

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 67 KB

english, 2005

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