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51

Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates

Bouwer, Sonja, Angelicheva, Dora, Chandler, David, Seeman, Pavel, Tournev, Ivailo, Kalaydjieva, Luba

Journal:

Genetic Testing

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

52

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

53

Neurological Symptoms, Genotype-Phenotype Correlations and Ethnic-specific Differences in Bulgarian Patients With Wilson Disease

Mihaylova, Violeta, Todorov, Teodor, Jelev, Hristo, Kotsev, Iskren, Angelova, Ludmila, Kosseva, Olga, Georgiev, Georgi, Ganeva, Ralica, Cherninkova, Silvia, Tankova, Ludmila, Savov, Aleksei, Tournev,

Journal:

The Neurologist

Year:

2012

Language:

english

File:

PDF, 155 KB

english, 2012

54

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

55

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

56

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

Guergueltcheva, V., Tournev, I., Bojinova, V., Hantke, J., Litvinenko, I., Ishpekova, B., Shmarov, A., Petrova, J., Jordanova, A., Kalaydjieva, L.

Journal:

Journal of Child Neurology

Year:

2006

Language:

english

File:

PDF, 149 KB

english, 2006

57

GNE protein expression and subcellular distribution are unaltered in HIBM

Krause, S., Aleo, A., Hinderlich, S., Merlini, L., Tournev, I., Walter, M. C., Argov, Z., Mitrani-Rosenbaum, S., Lochmuller, H.

Journal:

Year:

2007

Language:

english

File:

PDF, 547 KB

english, 2007

58

Homogeneous phenotype of the gypsy limb-girdle MD with the -sarcoglycan C283Y mutation

Merlini, L., Kaplan, J-C., Navarro, C., Barois, A., Bonneau, D., Brasa, J., Echenne, B., Gallano, P., Jarre, L., Jeanpierre, M., Kalaydjieva, L., Leturcq, F., Levi-Gomes, A., Toutain, A., Tournev, I.,

Journal:

Year:

2000

Language:

english

File:

PDF, 300 KB

english, 2000

59

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

60

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

61

Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies

Chamova, T, Guergueltcheva, V, Raycheva, M, Todorov, T, Genova, J, Bichev, S, Bojinova, V, Mitev, V, Tournev, I, Todorova, A

Journal:

Balkan Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 800 KB

english, 2013

62

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

63

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

64

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

Mihaylova, V., Hantke, J., Sinigerska, I., Cherninkova, S., Raicheva, M., Bouwer, S., Tincheva, R., Khuyomdziev, D., Bertranpetit, J., Chandler, D., Angelicheva, D., Kremensky, I., Seeman, P., Tournev

Journal:

Year:

2006

Language:

english

File:

PDF, 284 KB

english, 2006

65

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

66

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

67

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

68

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

69

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

70

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

71

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

72

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

Mišković, Nataša Dragašević, Domingo, Aloysius, Dobričić, Valerija, Max, Christoph, Braenne, Ingrid, Petrović, Igor, Grütz, Karen, Pawlack, Heike, Tournev, Ivailo, Kalaydjieva, Luba, Svetel, Marina, L

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 199 KB

english, 2016

73

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

74

Burden of Illness for Patients with Hereditary Attr Amyloidosis with Polyneuropathy Begins with Symptom Onset and Increases with Disease Progression

Denoncourt, RN, Adams, D, Gonzalez-Duarte, A, O'Riordan, W, Yang, C, Yamashita, T, Kristen, A, Tournev, I, Schmidt, H, Coelho, T, Berk, J, Lin, K, Chen, J, Gollob, J, Suhr, O

Journal:

Value in Health

Year:

2016

Language:

english

File:

PDF, 73 KB

english, 2016

75

Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Kastreva, K., Chamova, T., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

76

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

77

A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM)

Lochmüller, H., Behin, A., Caraco, Y., Lau, H., Mirabella, M., Tournev, I., Tarnopolsky, M., Pogoryelova, O., Shah, J., Koutsoubos, T., Skrinar, A., Mansbach, H., Kakkis, E., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

78

GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study

Behin, A., Mozaffar, T., Tarnopolsky, M., Gidaro, T., Pogoryelova, O., Shah, J., Krolczyk, S., Koutsoukos, T., Tournev, I., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 256 KB

english, 2017

79

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25* TCAP mutation

Chamova, T., Bichev, S., Gospodinova, M., Zlatareva, D., Taneva, A., Kastreva, K., Todorov, T., Todorova, A., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 245 KB

english, 2017

80

Three Novel NF1 Gene Mutations in a Cohort of Bulgarian Neurofibromatoses Patients

Glushkova, M., Yordanova, I., Todorov, T., Bojinova, V., Koleva, M., Dimova, P., Tournev, I., Angelova, L., Todorova, A., Mitev, V.

Journal:

Russian Journal of Genetics

Year:

2018

Language:

english

File:

PDF, 189 KB

english, 2018

81

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

82

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

83

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

84

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

85

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations*

Conceição, Isabel, Damy, Thibaud, Romero, Manuel, Galán, Lucía, Attarian, Shahram, Luigetti, Marco, Sadeh, Menachem, Sarafov, Stayko, Tournev, Ivailo, Ueda, Mitsuharu

Journal:

Year:

2019

Language:

english

File:

PDF, 1.70 MB

english, 2019

86

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

87

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

88

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

89

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

90

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

91

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

92

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

93

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