Arama Sonuçları - Jordanova, Albena

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

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

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

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

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Lack of Neuropathy-Related Phenotypes in Hint1 Knockout Mice Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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) Yazar: 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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