Rezultati - Ivailo Tournev

Refine Results
  1. 1
    Axonal neuropathy with neuromyotonia: there is a HINT

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

    Izdano 2016
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  2. 2
    Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies

    Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies od Teodora Chamova, Velina Guergueltcheva, Margarita Raycheva, Т. Тодоров, J Genova, S. Bichev, Veneta Bojinova, Vanio Mitev, Ivailo Tournev, Antonia Todorova

    Izdano 2013
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  3. 3
    Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of<i>TTR</i>gene mutations*

    Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of<i>TTR</i>gene mutations* od Isabel Conceição, Thibaud Damy, Manuel Romero, Lucía Galán, Shahram Attarian, Marco Luigetti, Menachem Sadeh, Stayko Sarafov, Ivailo Tournev, Mitsuharu Ueda

    Izdano 2019
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  4. 4
    First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

    First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy od David Adams, Ole B. Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M. Campistol, Michel Slama, Bouke P. C. Hazenberg, Teresa Coelho

    Izdano 2016
    Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  5. 5
    A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

    A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR) od Janina Hantke, David Chandler, R. H. M. King, Ronald J. A. Wanders, Dora Angelicheva, Ivailo Tournev, Elyshia McNamara, Marcel Kwa, Velina Guergueltcheva, Radka Kaneva, Frank Baas, Luba Kalaydjieva

    Izdano 2009
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  6. 6
    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 od 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

    Izdano 2013
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  7. 7
    A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

    A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy od Hanns Lochmüller, Anthony Béhin, Yoseph Caraco, Heather Lau, Massimiliano Mirabella, Ivailo Tournev, Mark A. Tarnopolsky, Oksana Pogoryelova, C. G. Woods, Alexander C. Lai, Jinay Shah, Tony Koutsoukos, Alison Skrinar, Hank Mansbach, Emil Kakkis, Tahseen Mozaffar

    Izdano 2019
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  8. 8
    Transcriptome-wide effects of a<i>POLR3A</i>gene mutation in patients with an unusual phenotype of striatal involvement

    Transcriptome-wide effects of a<i>POLR3A</i>gene mutation in patients with an unusual phenotype of striatal involvement od Dimitar N. Azmanov, Stefan J. Siira, Teodora Chamova, Ara Kaprelyan, Velina Guergueltcheva, Anne-Marie J. Shearwood, Ganqiang Liu, Bharti Morar, Oliver Rackham, Michael Bynevelt, Маргарита Грудкова, Zdravko Kamenov, Vassil Svechtarov, Ivailo Tournev, Luba Kalaydjieva, Aleksandra Filipovska

    Izdano 2016
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  9. 9
    ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress

    ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress od Stephanie Vrijsen, Laura Besora-Casals, Sarah van Veen, Jeffrey Zielich, Chris Van den Haute, Norin Nabil Hamouda, Christian Fischer, Bart Ghesquière, Ivailo Tournev, Patrizia Agostinis, Veerle Baekelandt, Jan Eggermont, Eric J. Lambie, Shaun Martin, Peter Vangheluwe

    Izdano 2020
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  10. 10
    Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial

    Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial od David Adams, Ivailo Tournev, Mark Taylor, Teresa Coelho, Violaine Planté‐Bordeneuve, John L. Berk, Alejandra González‐Duarte, Julian D. Gillmore, Soon-Chai Low, Yoshiki Sekijima, Laura Obici, Chongshu Chen, Prajakta Badri, Seth Arum, Joshua R. Vest, Michael Polydefkis

    Izdano 2022
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  11. 11
    Origins and Divergence of the Roma (Gypsies)

    Origins and Divergence of the Roma (Gypsies) od David Gresham, Bharti Morar, Peter A. Underhill, Giuseppe Passarino, Alice A. Lin, C. Wise, Dora Angelicheva, Francesc Calafell, Peter J. Oefner, Peidong Shen, Ivailo Tournev, Rosario de Pablo, V. Kučinskas, Anna Pérez-Lezaun, Elena Marushiaková, Vesselin Popov, Luba Kalaydjieva

    Izdano 2001
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  12. 12
    Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

    Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1 od Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva, Katherine R. Smith, Teodora Chamova, Laura V. Flórez, Michael Bynevelt, Thai B. Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydjieva

    Izdano 2012
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  13. 13
    The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

    The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time od Lev A. Zhivotovsky, Peter A. Underhill, Cengiz Cinnioğlu, Manfred Kayser, Bharti Morar, Toomas Kivisild, Rosaria Scozzari, Fulvio Cruciani, Giovanni Destro‐Bisol, Gabriella Spedini, Geoffrey K. Chambers, René J. Herrera, Kiau Kiun Yong, David Gresham, Ivailo Tournev, Marcus W. Feldman, Luba Kalaydjieva

    Izdano 2004
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  14. 14
    Origins, admixture and founder lineages in European Roma

    Origins, admixture and founder lineages in European Roma od Begoña Martínez‐Cruz, Isabel Mendizabal, Christine Harmant, Rosario de Pablo, Mihai Ioana, Dora Angelicheva, Anastasia Kouvatsi, Halyna Makukh, Mihai G. Netea, Horolma Pamjav, Andrea Zalán, Ivailo Tournev, Elena Marushiaková, Vesselin Popov, Jaume Bertranpetit, Luba Kalaydjieva, Lluís Quintana‐Murci, David Comas

    Izdano 2015
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  15. 15
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes od Iker Núñez‐Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Peter A.C. ‘t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltrán, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    Izdano 2024
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  16. 16
    Mutation History of the Roma/Gypsies

    Mutation History of the Roma/Gypsies od Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Ágnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, J. Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva

    Izdano 2004
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  17. 17
    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) od 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

    Izdano 2016
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  18. 18
    LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

    LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population od Dimitar N. Azmanov, С. Димитрова, Laura V. Flórez, Sylvia Cherninkova, Dragomir Draganov, Bharti Morar, Rosmawati Saat, Manel Juan, Juan I. Aróstegui, Sriparna Ganguly, Himla Soodyall, Subhabrata Chakrabarti, Harish Padh, Miguel Ángel López‐Nevot, Violeta Chernodrinska, Botio Anguelov, Partha P. Majumder, Lyudmila Angelova, Radka Kaneva, David A. Mackey, Ivailo Tournev, Luba Kalaydjieva

    Izdano 2010
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  19. 19
    A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

    A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS) od Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington‐Cruz, Arnt V. Kristen, Jonas Wixner, Igor Diemberger, Juan González‐Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté‐Bordeneuve, Pablo García‐Pavía, Ivailo Tournev, José González‐Costello, Alejandra González‐Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass

    Izdano 2023
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  20. 20
    Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

    Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 od Jan Senderek, Sean M. Garvey, Michael J. B. Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte, Peter Hedera, Kristy Crooks, Carsten Bergmann, Sabine Rudnik–Schöneborn, Klaus Zerres, Hanns Lochmüller, Eric Seboun, Joachim Weis, J. Beckmann, Michael A. Hauser, Charles E. Jackson

    Izdano 2009
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:

Iskalna orodja: