Ivailo Tournev: search on Z-Library

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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

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

Dora Angelicheva, Ivailo Tournev, Velina Guergueltcheva, Violeta Mihaylova, Dimitar N. Azmanov, Bharti Morar, Melania Radionova, Shelagh J. Smith, Dora Zlatareva, John M. Stevens, Radka Kaneva, Veneta

Journal:

Year:

2009

Language:

english

File:

PDF, 577 KB

english, 2009

34

Mosaicism of a missenseSCN1Amutation and Dravet syndrome in a Roma/Gypsy family

Dimitar N. Azmanov, Sashka Zhelyazkova, Petya S. Dimova, Melania Radionova, Veneta Bojinova, Laura Florez, Shelagh J. Smith, Ivailo Tournev, Assen Jablensky, John Mulley, Ingrid Scheffer, Luba Kalaydj

Journal:

Epileptic Disorders

Year:

2010

Language:

english

File:

PDF, 351 KB

english, 2010

35

The meryon lecture at the 18th annual meeting of the meryon society, Oxford/UK, 2014

Tournev, Ivailo

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 888 KB

english, 2015

36

Fecal calprotectin levels are elevated in transthyretin amyloidosis patients with gastrointestinal manifestations

Nakov, Radislav, Sarafov, Stayko, Nakov, Ventsislav, Gospodinova, Mariana, Ianiro, Gianluca, Todorov, Tihomir, Todorova, Albena, Tournev, Ivailo

Journal:

Year:

2020

Language:

english

File:

PDF, 250 KB

english, 2020

37

Fecal calprotectin concentrations in patients with hereditary transthyretin amyloidosis and gastrointestinal symptoms

Nakov, Radislav, Sarafov, Stayko, Nakov, Ventsislav, Gospodinova, Mariana, Tournev, Ivailo

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2020

File:

PDF, 235 KB

2020

38

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Lochmüller, Hanns, Behin, Anthony, Caraco, Yoseph, Lau, Heather, Mirabella, Massimiliano, Tournev, Ivailo, Tarnopolsky, Mark, Pogoryelova, Oksana, Woods, Catherine, Lai, Alexander, Shah, Jinay, Koutso

Journal:

Year:

2019

File:

PDF, 567 KB

2019

39

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Hantke, Janina, Chandler, David, King, Rosalind, Wanders, Ronald JA, Angelicheva, Dora, Tournev, Ivailo, McNamara, Elyshia, Kwa, Marcel, Guergueltcheva, Velina, Kaneva, Radka

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 373 KB

english, 2009

40

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A.A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 320 KB

english, 2003

41

A family with permanent neonatal diabetes due to a novel mutation in INS gene

Dimova, Rumyana, Tankova, Tsvetalina, Guergueltcheva, Velina, Tournev, Ivailo, Konstantinova, Maya

Journal:

Diabetes Research and Clinical Practice

Year:

2015

Language:

english

File:

PDF, 376 KB

english, 2015

42

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

Chamova, Teodora, Zlatareva, Dora, Raycheva, Margarita, Bichev, Stoyan, Kalaydjieva, Luba, Tournev, Ivailo

Journal:

Behavioural Neurology

Year:

2015

Language:

english

File:

PDF, 2.51 MB

english, 2015

43

Traditional practices and perceptions of epilepsy among people in Roma communities in Bulgaria

Antimov, Plamen, Tournev, Ivailo, Zhelyazkova, Sashka, Sander, Josemir W.

Journal:

Epilepsy & Behavior

Year:

2020

File:

PDF, 768 KB

2020

44

Reply: Mutations in TUBB4A and spastic paraplegia

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

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 120 KB

english, 2015

45

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

Luba Kalaydjieva, Hanns Lochmüller, Ivailo Tournev, Frank Baas, Judit Beres, Jaume Colomer, Velina Guergueltcheva, Ralf Herrmann, Veronika Karcagi, Rosalind King, Toshiyuki Miyata, Andrea Müllner-Eide

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

46

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Vero

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 3.79 MB

english, 2004

47

A novel GEFS+ locus on 12p13.33 in a large Roma family

Bharti Morar, Sashka Zhelyazkova, Dimitar N. Azmanov, Melania Radionova, Dora Angelicheva, Velina Guergueltcheva, Radka Kaneva, Ingrid E. Scheffer, Ivailo Tournev, Luba Kalaydjieva, Josemir W. Sander

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 488 KB

english, 2011

48

A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

Tamara Rogers, David Chandler, Dora Angelicheva, P.K. Thomas, Bryan Youl, Ivailo Tournev, Velina Gergelcheva, Luba Kalaydjieva

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.48 MB

english, 2000

49

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

Albena Todorova, Bilyana Georgieva, Ivailo Tournev, Tihomir Todorov, Nadja Bogdanova, Vanyo Mitev, Clemens R. Mueller, Ivo Kremensky, Jürgen Horst

Journal:

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

50

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

Dillen, Lubina, Van Langenhove, Tim, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Sarafov, Stayko, Tournev, Ivailo, Merlin, Celine, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter P., Jordanova, A

Journal:

Neurobiology of Aging

Year:

2013

Language:

english

File:

PDF, 336 KB

english, 2013

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