Chamova, J.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

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

2

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

3

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

4

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina,

Journal:

Year:

2015

Language:

english

File:

PDF, 646 KB

english, 2015

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

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

7

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Vry, Julia, Gramsch, Kathrin, Rodger, Sunil, Thompson, Rachel, Steffensen, Birgit F., Rahbek, Jes, Doerken, Sam, Tassoni, Adrian, Beytía, María de los Angeles, Guergueltcheva, Velina, Chamova, Teodora

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 602 KB

english, 2016

8

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

9

X-ray investigation of potassium carbonate peroxyhydrate, K2CO3·3H2O2

V. N. Chamova, G. A. Gol'der

Journal:

Journal of Structural Chemistry

Year:

1962

Language:

english

File:

PDF, 75 KB

english, 1962

10

DNA precipitation by normal rabbit sera

V. Yu. Klimov, K. G. Chamova

Journal:

Bulletin of Experimental Biology and Medicine

Year:

1965

Language:

english

File:

PDF, 245 KB

english, 1965

11

The effect of polymerism on the antigenic properties of preparations of desoxyribonucleic acid

Journal:

Bulletin of Experimental Biology and Medicine

Year:

1958

Language:

english

File:

PDF, 251 KB

english, 1958

12

Serological activity of high-polymer desoxyribonucleic acid

Journal:

Bulletin of Experimental Biology and Medicine

Year:

1957

Language:

english

File:

PDF, 295 KB

english, 1957

13

Physicochemical and immunologic properties of tissue DNA from mice with oncornavirus-induced leukemia

K. G. Chamova, A. A. Perelaznyi, N. I. Guseva

Journal:

Bulletin of Experimental Biology and Medicine

Year:

1981

Language:

english

File:

PDF, 252 KB

english, 1981

14

Effect of hydrotechnical construction on the soil-cover complex of Riparian territories and nature conservation measures

Journal:

Power Technology and Engineering

Year:

1987

Language:

english

File:

PDF, 659 KB

english, 1987

15

Toward a sustainable European Network for Health Technology Assessment

F. B. Kristensen, J. Chamova, N. W. Hansen

Journal:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Year:

2006

Language:

english

File:

PDF, 420 KB

english, 2006

16

The action of carbon dioxide on potassium and sodium carbonate peroxyhydrates

I. I. Vol'kov, V. N. Chamova

Journal:

Russian Chemical Bulletin

Year:

1968

Language:

english

File:

PDF, 108 KB

english, 1968

17

On the mechanism of the formation of ozonides of the alkali metals

I. I. Vol'nov, V. N. Chamova, E. I. Latysheva

Journal:

Russian Chemical Bulletin

Year:

1967

Language:

english

File:

PDF, 344 KB

english, 1967

18

A Study of systems containing concentrated hydrogen peroxide 14. Solubility isotherms of the ternary system K2CO3-H2O2-H2O

S. Z. Makarov, V. N. Chamova

Journal:

Russian Chemical Bulletin

Year:

1958

Language:

english

File:

PDF, 423 KB

english, 1958

19

Synthesis of tagged hydrogen peroxide from heavy-water vapor by subjecting the latter to the action of a glow discharge

I. I. Vol'nov, A. B. Tsentsiper, V. N. Chamova

Journal:

Russian Chemical Bulletin

Year:

1961

Language:

english

File:

PDF, 60 KB

english, 1961

20

Study of systems containing hydrogen peroxide Part 2. Thermal properties and dehydration of perhydrates of sodium carbonate

S. Z. Makarov, V. N. Chamova

Journal:

Russian Chemical Bulletin

Year:

1952

Language:

english

File:

PDF, 133 KB

english, 1952

21

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

22

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva, Katherine R. Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudm

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

23

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Guergueltcheva, V., Peeters, K., Baets, J., Ceuterick-de Groote, C., Martin, J.J., Suls, A., Vriendt, E.D., Mihaylova, V., Chamova, T., Almeida-Souza, L., Ydens, E., Tzekov, C., Hadjidekov, G., Gospod

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

24

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Peeters, Kristien, Litvinenko, Ivan, Asselbergh, Bob, Almeida-Souza, Leonardo, Chamova, Teodora, Geuens, Thomas, Ydens, Elke, Zimoń, Magdalena, Irobi, Joy, De Vriendt, Els, De Winter, Vicky, Ooms, Tin

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.62 MB

english, 2013

25

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Guergueltcheva, V., Peeters, K., Baets, J., Ceuterick-de Groote, C., Martin, J. J., Suls, A., De Vriendt, E., Mihaylova, V., Chamova, T., Almeida-Souza, L., Ydens, E., Tzekov, C., Hadjidekov, G., Gosp

Journal:

Year:

2011

Language:

english

File:

PDF, 1.09 MB

english, 2011

26

Four-dimensional ultrasound calf muscle imaging in patients with genetic types of distal myopathy

Titianova, Ekaterina, Chamova, Teodora, Guergueltcheva, Velina, Tournev, Ivailo

Journal:

Perspectives in Medicine

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

27

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

28

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Peeters, K., Chamova, T., Jordanova, A.

Journal:

Year:

2014

Language:

english

File:

PDF, 625 KB

english, 2014

29

Challenges of diagnostic exome sequencing in an inbred founder population

Azmanov, Dimitar N., Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kala

Journal:

Molecular Genetics & Genomic Medicine

Year:

2013

Language:

english

File:

PDF, 2.00 MB

english, 2013

30

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

31

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Ivanov, Ivan S., Azmanov, Dimitar N., Ivanova, Mariya B., Chamova, Teodora, Pacheva, Ilyana H., Panova, Margarita V., Song, Sharon, Morar, Bharti, Yordanova, Ralitsa V., Galabova, Fani K., Sotkova, Ig

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

32

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

33

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

34

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Em

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 745 KB

english, 2015

35

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

Chamova, Teodora, Kirov, Andrey, Guergueltcheva, Velina, Todorov, Tihomir, Bojinova, Veneta, Zhelyazkova, Sashka, Samuel, Jean, Radionova, Melania, Sarafov, Stayko, Cherninkova, Sylvia, Krastev, Stefa

Journal:

European Neurology

Year:

2016

Language:

english

File:

PDF, 269 KB

english, 2016

36

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

37

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

38

European network for health technology assessment – EUnetHTA

Chamova, Julia, Lange, Julie

Journal:

Medical Writing

Year:

2013

Language:

english

File:

PDF, 202 KB

english, 2013

39

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Azmanov, Dimitar N., Siira, Stefan J., Chamova, Teodora, Kaprelyan, Ara, Guergueltcheva, Velina, Shearwood, Anne-Marie J., Liu, Ganqiang, Morar, Bharti, Rackham, Oliver, Bynevelt, Michael, Grudkova, M

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.20 MB

english, 2016

40

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

41

Loss-of-function mutations in the ATP13A2/ PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Estrada-Cuzcano, Alejandro, Martin, Shaun, Chamova, Teodora, Synofzik, Matthis, Timmann, Dagmar, Holemans, Tine, Andreeva, Albena, Reichbauer, Jennifer, De Rycke, Riet, Chang, Dae-In, van Veen, Sarah,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.83 MB

english, 2017

42

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

43

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

44

Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene

Chamova, T., Estrada-Cuzcano, A., Martin, S., Holemans, T., Andreeva, A., Rycke, R.D., Chang, D.I., van Veen, S., Samuel, J., Sørensen, D.M., Asselbergh, B., Zuchner, S., Jordanova, A., Vangheluwe, P.

Journal:

Journal of the Neurological Sciences

Year:

2017

Language:

english

File:

PDF, 368 KB

english, 2017

45

Limb Girdle Muscular Dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation

Chamova, Teodora, Bichev, Stoyan, Todorov, Tihomir, Gospodinova, Mariana, Taneva, Ani, Kastreva, Kristina, Zlatareva, Dora, Krupev, Martin, Hadjiivanov, Rosen, Guergueltcheva, Velina, Grozdanova, Lili

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.35 MB

english, 2018

46

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

47

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

48

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

49

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

50

PNS179 HTA IMPLEMENTATION IN MIDDLE EAST AND NORTH AFRICA: COMPARISON OF CURRENT AND PREFERRED STATUS

Fasseeh, A.N., George, M., El Rabbat, M., Al Rabayah, A.A., Karam, R., Kristensen, F.B., Moneim, A.R.I.A., Jameleddine, M., Al-Saggabi, A.H., Alowayesh, M.S., Abaza, S., Chamova, J., Kalo, Z.

Journal:

Value in Health

Year:

2019

Language:

english

File:

PDF, 716 KB

english, 2019