Rezultati - Jordanova, Albena

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies od Peeters, Kristien, Chamova, Teodora, Jordanova, Albena

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Drosophila Models for Charcot–Marie–Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases od Morant, Laura, Erfurth, Maria-Luise, Jordanova, Albena

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Axonal neuropathy with neuromyotonia: there is a HINT od Peeters, Kristien, Chamova, Teodora, Tournev, Ivailo, Jordanova, Albena

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LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond od Palaima, Paulius, Berciano, José, Peeters, Kristien, Jordanova, Albena

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Lack of Neuropathy-Related Phenotypes in Hint1 Knockout Mice od Seburn, Kevin L., Morelli, Kathryn H., Jordanova, Albena, Burgess, Robert W.

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Rapid biophysical analyses of gastric aspirates from risk newborns for lung maturity assessment after corticosteroid therapy od Tsanova, Asya, Jordanova, Albena, Stoyanova, Vishnya, Tasheva-Terzieva, Elena, Ivanova, Krasimira, Lalchev, Zdravko

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Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy od Palaima, Paulius, Chamova, Teodora, Jander, Sebastian, Mitev, Vanyo, Van Broeckhoven, Christine, Tournev, Ivailo, Peeters, Kristien, Jordanova, Albena

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HINT1 neuropathy in Norway: clinical, genetic and functional profiling od Amor-Barris, Silvia, Høyer, Helle, Brauteset, Lin V., De Vriendt, Els, Strand, Linda, Jordanova, Albena, Braathen, Geir J., Peeters, Kristien

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A novel AARS mutation in a family with dominant myeloneuropathy od Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.

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Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort od Candayan, Ayşe, Çakar, Arman, Yunisova, Gulshan, Özdağ Acarlı, Ayşe Nur, Atkinson, Derek, Topaloğlu, Pınar, Durmuş, Hacer, Yapıcı, Zuhal, Jordanova, Albena, Parman, Yeşim, Battaloğlu, Esra

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

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HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report od de Aguiar Coelho Silva Madeiro, Bianca, Peeters, Kristien, Santos de Lima, Elker Lene, Amor‐Barris, Silvia, De Vriendt, Els, Jordanova, Albena, Cartaxo Muniz, Maria Tereza, da Cunha Correia, Carolina

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CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila od Ermanoska, Biljana, Motley, William W., Leitão-Gonçalves, Ricardo, Asselbergh, Bob, Lee, LaTasha H., De Rijk, Peter, Sleegers, Kristel, Ooms, Tinne, Godenschwege, Tanja A., Timmerman, Vincent, Fischbeck, Kenneth H., Jordanova, Albena

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Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 od Jordanova, Albena, Thomas, Florian P., Guergueltcheva, Velina, Tournev, Ivailo, Gondim, Francisco A. A., Ishpekova, Borjana, De Vriendt, Els, Jacobs, An, Litvinenko, Ivan, Ivanova, Neviana, Buzhov, Borjan, De Jonghe, Peter, Kremensky, Ivo, Timmerman, Vincent

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Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy od Storkebaum, Erik, Leitão-Gonçalves, Ricardo, Godenschwege, Tanja, Nangle, Leslie, Mejia, Monica, Bosmans, Inge, Ooms, Tinne, Jacobs, An, Van Dijck, Patrick, Yang, Xiang-Lei, Schimmel, Paul, Norga, Koen, Timmerman, Vincent, Callaerts, Patrick, Jordanova, Albena

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Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance od 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, Tinne, Timmerman, Vincent, Tournev, Ivailo, Jordanova, Albena

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Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy od Atkinson, Derek, Nikodinovic Glumac, Jelena, Asselbergh, Bob, Ermanoska, Biljana, Blocquel, David, Steiner, Regula, Estrada-Cuzcano, Alejandro, Peeters, Kristien, Ooms, Tinne, De Vriendt, Els, Yang, Xiang-Lei, Hornemann, Thorsten, Milic Rasic, Vedrana, Jordanova, Albena

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Metabolite profile of a mouse model of Charcot–Marie–Tooth type 2D neuropathy: implications for disease mechanisms and interventions od 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, Bult, Carol J., Burgess, Robert W.

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation od Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies) od Kalaydjieva, Luba, Perez-Lezaun, Anna, Angelicheva, Dora, Onengut, Suna, Dye, Danielle, Bosshard, Nils U., Jordanova, Albena, Savov, Alexei, Yanakiev, Peter, Kremensky, Ivo, Radeva, Brigitta, Hallmayer, Joachim, Markov, Arseni, Nedkova, Vanya, Tournev, Ivailo, Aneva, Lidia, Gitzelmann, Richard

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