Albena Jordanova: search on Z-Library

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1

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

2

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R.F. Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova, Albena Jordanova, Berten Ce

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 274 KB

english, 2012

3

Transthyretin familial amyloid polyneuropathy due to lle107Val mutation mimicking atypical chronic inflammatory demyelinating polyneuropathy: case report

Gondim, Francisco de Assis Aquino, Filha, Joana G. Holanda, Jordanova, Albena

Journal:

Acta Neurologica Belgica

Year:

2018

Language:

english

File:

PDF, 820 KB

english, 2018

4

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

5

Generalized Epilepsy With Febrile Seizures plus: Novel SCN1A Mutation

Petia S. Dimova, Iglika Yordanova, Veneta Bojinova, Albena Jordanova, Ivo Kremenski

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 933 KB

english, 2010

6

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

Raymonda Varon, Manfred Stuhrmann, Milan Macek Jr., Annie Kufardjieva, Dora Angelicheva, Klaus Magdorf, Albena Jordanova, Alexey Savov, Ulrich Wahn, Milan Macek, Vesselin Lalov, Tanya Ivanova, Helmut

Journal:

Year:

1995

Language:

english

File:

PDF, 644 KB

english, 1995

7

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Irobi, Joy, Impe, Katrien Van, Seeman, Pavel, Jordanova, Albena, Dierick, Ines, Verpoorten, Nathalie, Michalik, Andrej, Vriendt, Els De, Jacobs, An, Gerwen, Veerle Van

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 955 KB

english, 2004

8

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 181 KB

english, 1999

9

Foam film study of albumin inhibited lung surfactant preparations: effect of added hydrophilic polymers

Georgiev, Georgi As., Vassilieff, Christian, Jordanova, Albena, Tsanova, Asya, Lalchev, Zdravko

Journal:

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

10

NEFLE396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype

Berciano, José, García, Antonio, Peeters, Kristien, Gallardo, Elena, De Vriendt, Els, Pelayo-Negro, Ana L., Infante, Jon, Jordanova, Albena

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 1.36 MB

english, 2015

11

Study of the Mechanism of the Antimicrobial Activity of Novel Water Soluble Ammonium Quaternary Benzanthrone on Model Membranes

Tsanova, Asya, Stoyanova, Vishnya, Jordanova, Albena, Grabchev, Ivo

Journal:

Journal of Membrane Biology

Year:

2020

File:

PDF, 1.03 MB

2020

12

Formation of monolayers and bilayer foam films from lamellar, inverted hexagonal and cubic lipid phases

Albena Jordanova, Zdravko Lalchev, Boris Tenchov

Journal:

European Biophysics Journal

Year:

2003

Language:

english

File:

PDF, 359 KB

english, 2003

13

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

14

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

Janssens, Katrien, Goethals, Sofie, Atkinson, Derek, Ermanoska, Biljana, Fransen, Erik, Jordanova, Albena, Auer-Grumbach, Michaela, Asselbergh, Bob, Timmerman, Vincent

Journal:

Neurobiology of Disease

Year:

2014

Language:

english

File:

PDF, 709 KB

english, 2014

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

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

17

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary

Albena Jordanova, Veronika Kargaci, Ivo Kremensky, Ivan Litvinenko, Maria Uzunova, Ivajlo Turnev, Borjana Ishpekova, Agnes Herzegfalvi, Irina Simeonova, Luba Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

18

Surface Properties and Behavior of Lipid Extracts from Plasma Membranes of Cells Cultured as Monolayer and in Tissue-Like Conditions

Albena Jordanova, Nadezhda Stefanova, Galya Staneva, Roumen Pankov, Albena Momchilova, Zdravko Lalchev

Journal:

Cell Biochemistry and Biophysics

Year:

2009

Language:

english

File:

PDF, 325 KB

english, 2009

19

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

Berciano, José, García, Antonio, Gallardo, Elena, Peeters, Kristien, Pelayo-Negro, Ana L., Álvarez-Paradelo, Silvia, Gazulla, José, Martínez-Tames, Miriam, Infante, Jon, Jordanova, Albena

Journal:

Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

20

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

21

Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study

Dora Angelicheva, Francesc Calafell, Alexey Savov, Albena Jordanova, Annie Kufardjieva, Ivanka Galeva, Vania Nedkova, Tanya Ivanova, Petya Yankova, Dimitrina Konstantinova, Evgeny Genev, Luba Kalaydji

Journal:

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

22

Reconstructing the Population History of European Romani from Genome-wide Data

Isabel Mendizabal, Oscar Lao, Urko M. Marigorta, Andreas Wollstein, Leonor Gusmão, Vladimir Ferak, Mihai Ioana, Albena Jordanova, Radka Kaneva, Anastasia Kouvatsi, Vaidutis Kučinskas, Halyna Makukh, A

Journal:

Current Biology

Year:

2012

Language:

english

File:

PDF, 1.23 MB

english, 2012

23

Influence of surfactant protein C on the interfacial behavior of phosphatidylethanolamine monolayers

Albena Jordanova, Georgi As. Georgiev, Svobodan Alexandrov, Roumen Todorov, Zdravko Lalchev

Journal:

European Biophysics Journal

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

24

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Ma

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.94 MB

english, 2014

25

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

He, Weiwei, Bai, Ge, Zhou, Huihao, Wei, Na, White, Nicholas M., Lauer, Janelle, Liu, Huaqing, Shi, Yi, Dumitru, Calin Dan, Lettieri, Karen, Shubayev, Veronica, Jordanova, Albena, Guergueltcheva, Velin

Journal:

Year:

2015

Language:

english

File:

PDF, 5.95 MB

english, 2015

26

Metabolite profile of a mouse model of Charcot–Marie–Tooth type 2D neuropathy: implications for disease mechanisms and interventions

Bais, Preeti, Beebe, Kirk, Morelli, Kathryn H., Currie, Meagan E., Norberg, Sara N., Evsikov, Alexei V., Miers, Kathy E., Seburn, Kevin L., Guergueltcheva, Velina, Kremensky, Ivo, Jordanova, Albena, B

Journal:

Year:

2016

Language:

english

File:

PDF, 1.33 MB

english, 2016

27

Unraveling the genetics of distal hereditary motor neuronopathies

Joy Irobi, Ines Dierick, Albena Jordanova, Kristl G. Clayes, Peter De Jonghe, Vincent Timmerman

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 281 KB

english, 2006

28

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 687 KB

english, 2003

29

NEFLN98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

Berciano, José, Peeters, Kristien, García, Antonio, López-Alburquerque, Tomás, Gallardo, Elena, Hernández-Fabián, Arantxa, Pelayo-Negro, Ana L., De Vriendt, Els, Infante, Jon, Jordanova, Albena

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 913 KB

english, 2016

30

Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy

Blocquel, David, Li, Sheng, Wei, Na, Daub, Herwin, Sajish, Mathew, Erfurth, Maria-Luise, Kooi, Grace, Zhou, Jiadong, Bai, Ge, Schimmel, Paul, Jordanova, Albena, Yang, Xiang-Lei

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 3.96 MB

english, 2017

31

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Stephan Züchner, Peter De Jonghe, Albena Jordanova, Kristl G. Claeys, Velina Guergueltcheva, Sylvia Cherninkova, Steven R. Hamilton, Greg Van Stavern, Karen M. Krajewski, Jeffery Stajich, Ivajlo Tourn

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 835 KB

english, 2006

32

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient

Savov, Alexey, Jordanova, Albena, Gavrilov, Dimitar, Angelicheva, Dora, Kalaydjieva, Luba

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.73 MB

english, 1994

33

The SCN1A variant database: a novel research and diagnostic tool

Lieve RF Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova, Peter De Jonghe

Journal:

Year:

2009

Language:

english

File:

PDF, 626 KB

english, 2009

34

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Tey, Shelisa, Shahrizaila, Nortina, Drew, Alexander P., Samulong, Sarimah, Goh, Khean-Jin, Battaloglu, Esra, Atkinson, Derek, Parman, Yesim, Jordanova, Albena, Chung, Ki Wha, Choi, Byung-Ok, Li, Yi-Ch

Journal:

Year:

2019

Language:

english

File:

PDF, 737 KB

english, 2019

35

2176insC: A Novel Mutation in Exon 13 of the Cystic Fibrosis Gene

Savov, Alexey, Angelicheva, Dora, Jordanova, Albena, Kremensky, Ivo, Kalaydjieva, Luba

Journal:

Year:

1996

File:

PDF, 332 KB

1996

36

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation

Inzelberg, Rivka, Estrada-Cuzcano, Alejandro, Laitman, Yael, De Vriendt, Els, Friedman, Eitan, Jordanova, Albena

Journal:

Journal of Parkinson s Disease

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

37

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

38

Effects of the interaction and surface morphology of mixed DPoPE/Poloxamer 188 monolayers and thin liquid films

Jordanova, Albena, Tenchov, Boris, Lalchev, Zdravko

Journal:

Year:

2011

Language:

english

File:

PDF, 331 KB

english, 2011

39

Reduced penetrance in hereditary motor neuropathy caused byTRPV4Arg269Cys mutation

José Berciano, Jonathan Baets, Elena Gallardo, Magdalena Zimoń, Antonio García, Eduardo López-Laso, Onofre Combarros, Jon Infante, Vincent Timmerman, Albena Jordanova, Peter De Jonghe

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 395 KB

english, 2011

40

Rapid biophysical analyses of gastric aspirates from risk newborns for lung maturity assessment after corticosteroid therapy

Tsanova, Asya, Jordanova, Albena, Stoyanova, Vishnya, Tasheva-Terzieva, Elena, Ivanova, Krasimira, Lalchev, Zdravko

Journal:

Year:

2019

File:

PDF, 700 KB

2019

41

Deletion analysis of Bulgarian SMA families

Albena Jordanova, Violeta Stoyanova, Maria Uzunova, Ivan Litvinenko, Ivo Kremensky

Journal:

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

42

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Jordanova, Albena, Irobi, Joy, Thomas, Florian P, Van Dijck, Patrick, Meerschaert, Kris, Dewil, Maarten, Dierick, Ines, Jacobs, An, De Vriendt, Els, Guergueltcheva, Velina

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 478 KB

english, 2006

43

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

44

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Arvid Suls, Saul A. Mullen, Yvonne G. Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V. Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R. F. Claes, Albena Jordanova, Samuel F.

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

45

Effect of halothane on lung carcinoma cells A 549

Ralitza Valtcheva, Elena Stephanova, Albena Jordanova, Roumen Pankov, George Altankov, Zdravko Lalchev

Journal:

Chemico-Biological Interactions

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

46

Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

He, Weiwei, Bai, Ge, Zhou, Huihao, Wei, Na, White, Nicholas M., Lauer, Janelle, Liu, Huaqing, Shi, Yi, Dan Dumitru, Calin, Lettieri, Karen, Shubayev, Veronica, Jordanova, Albena, Guergueltcheva, Velin

Journal:

Year:

2016

File:

PDF, 59 KB

2016

47

Lack of Neuropathy-Related Phenotypes in Hint1 Knockout Mice

Seburn, Kevin L., Morelli, Kathryn H., Jordanova, Albena, Burgess, Robert W.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

48

High percentage acrylamide gels improve resolution in SSCP analysis

Savov, Alexey, Angelicheva, Dora, Jordanova, Albena, Eigel, Anton, Kalaydjieva, Luba

Journal:

Nucleic Acids Research

Year:

1992

Language:

english

File:

PDF, 95 KB

english, 1992

49

Rhamnolipid Biosurfactants Produced by Renibacterium salmoninarum 27BN During Growth on n-Hexadecane

Christova, Nelly, Tuleva, Borjana, Lalchev, Zdravko, Jordanova, Albena, Jordanov, Bojidar

Journal:

Zeitschrift für Naturforschung C

Year:

2004

Language:

english

File:

PDF, 350 KB

english, 2004

50

Surface Chemistry Study of the Interactions of Benzalkonium Chloride with Films of Meibum, Corneal Cells Lipids, and Whole Tears

Georgiev, Georgi A., Yokoi, Norihiko, Koev, Krassimir, Kutsarova, Elena, Ivanova, Slavyana, Kyumurkov, Alexander, Jordanova, Albena, Krastev, Rumen, Lalchev, Zdravko

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 2.39 MB

english, 2011

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