Resultados da busca - Albena Jordanova

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  1. 1
    Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease

    Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease por Albena Jordanova

    Publicado em 2003
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  2. 2
    Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

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

    Publicado em 2014
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  3. 3
    Axonal neuropathy with neuromyotonia: there is a HINT

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

    Publicado em 2016
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  4. 4
    Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

    Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy por Emil Ylikallio, Rosanna Pöyhönen, M. Zimoń, Els De Vriendt, Taru Hilander, Anders Paetau, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa

    Publicado em 2013
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  5. 5
    The<i>SCN1A</i>variant database: a novel research and diagnostic tool

    The<i>SCN1A</i>variant database: a novel research and diagnostic tool por Lieve Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova, Peter De Jonghe

    Publicado em 2009
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  6. 6
    ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

    ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function por Şeyma Demirsoy, Shaun Martin, Sahar Motamedi, Sarah van Veen, Thomas Holemans, Chris Van den Haute, Albena Jordanova, Veerle Baekelandt, Peter Vangheluwe, Patrizia Agostinis

    Publicado em 2017
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  7. 7
    <i>HINT1</i> founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

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

    Publicado em 2021
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  8. 8
    Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

    Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance por Koen Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, M. Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanova

    Publicado em 2013
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  9. 9
    Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

    Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy por Derek Atkinson, J. Nikodinović Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, R. Steiner, Alejandro Estrada‐Cuzcano, Koen Peeters, Tinne Ooms, Els De Vriendt, Xiang‐Lei Yang, Thorsten Hornemann, Vedrana Milić Rašić, Albena Jordanova

    Publicado em 2017
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  10. 10
    Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in <i>Drosophila</i> features of human Charcot–Marie–Tooth neuropathy

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

    Publicado em 2009
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  11. 11
    <i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease

    <i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease por William W. Motley, Paulius Palaima, Sabrina W. Yum, Michael Gonzalez, Feifei Tao, Julia Wanschitz, Alleene V. Strickland, Wolfgang N. Löscher, Els De Vriendt, Stefan Koppi, Līvija Medne, Andreas Janecke, Albena Jordanova, Stephan Züchner, Steven S. Scherer

    Publicado em 2016
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  12. 12
    Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

    Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy por Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, Julika Pitsch, Lieve Claes, Dimitrina Hristova, Albena Jordanova, Sirpa Ala‐Mello, A Bellan-Koch, Dragica Blazevic, Simone J.A. Schubert, Evan A. Thomas, Steven Petrou, Albert J. Becker, Peter De Jonghe, Holger Lerche

    Publicado em 2010
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  13. 13
    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation por Annelies Rotthier, Jonathan Baets, Els De Vriendt, Alice K. Jacobs, Michaela Auer‐Grumbach, Nicolas Lévy, Nathalie Bonello‐Palot, Sara Şebnem Kılıç, Joachim Weis, A. Nascimento, Mariëlle E.M. Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman

    Publicado em 2009
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  14. 14
    CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

    CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase por Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M. White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri, Veronica I. Shubayev, Albena Jordanova, Velina Guergueltcheva, Patrick R. Griffin, Robert W. Burgess, Samuel L. Pfaff, Xiang‐Lei Yang

    Publicado em 2015
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  15. 15
    Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

    Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V por Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos Middleton, Kumaraswamy Sivakumar, Victor Ionâşescu, Benoît Funalot, Jeffery M. Vance, Lev G. Goldfarb, Kenneth H. Fischbeck, Eric D. Green

    Publicado em 2003
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  16. 16
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I por Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

    Publicado em 2010
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  17. 17
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes por M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova

    Publicado em 2011
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  18. 18
    Reconstructing the Population History of European Romani from Genome-wide Data

    Reconstructing the Population History of European Romani from Genome-wide Data por Isabel Mendizabal, Óscar Lao, Urko M. Marigorta, Andreas Wollstein, Leonor Gusmão, V. Ferák, Mihai Ioana, Albena Jordanova, Radka Kaneva, Anastasia Kouvatsi, Vaidutis Kučinskas, Halyna Makukh, Andres Metspalu, Mihai G. Netea, Rosario de Pablo, Horolma Pamjav, Dragica Radojković, Sarah J.H. Rolleston, Jadranka Sertić, Milan Maçek, David Comas, Manfred Kayser

    Publicado em 2012
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  19. 19
    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) por Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, J. Pon Samuel, Lüdger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Züchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle

    Publicado em 2016
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  20. 20
    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy por Joy Irobi, Katrien Van Impe, Pavel Seeman, Albena Jordanova, Ines Dierick, Nathalie Verpoorten, Andrej Michalik, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Krist’l Vennekens, Radim Mazanec, Ivailo Tournev, David Hilton‐Jones, Kevin Talbot, Ivo Kremensky, Ludo Van Den Bosch, Wim Robberecht, Joël Vandekerckhove, Christine Van Broeckhoven, Jan Gettemans, Peter De Jonghe, Vincent Timmerman

    Publicado em 2004
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