Resultats de la cerca - Barbara Vona

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  1. 1
    The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

    The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment per Barbara Vona, Abolfazl Rad, Ellen Reisinger

    Publicat 2020
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  2. 2
    Genetics of Tinnitus: Still in its Infancy

    Genetics of Tinnitus: Still in its Infancy per Barbara Vona, Indrajit Nanda, Wafaa Shehata-Dieler, Thomas Haaf

    Publicat 2017
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  3. 3
    Gene therapy for deafness: are we there now?

    Gene therapy for deafness: are we there now? per Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona

    Publicat 2024
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  4. 4
    Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

    Non-syndromic hearing loss gene identification: A brief history and glimpse into the future per Barbara Vona, Indrajit Nanda, Michaela A. H. Hofrichter, Wafaa Shehata-Dieler, Thomas Haaf

    Publicat 2015
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  5. 5
    Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway

    Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway per Barbara Peixoto Pinheiro, Barbara Vona, Hubert Löwenheim, Lukas Rüttiger, Marlies Knipper, Youssef Adel

    Publicat 2020
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  6. 6
    Is there an unmet medical need for improved hearing restoration?

    Is there an unmet medical need for improved hearing restoration? per Bettina Wolf, Kathrin Kusch, Victoria Hunniford, Barbara Vona, Robert Kühler, Daniel Keppeler, Nicola Strenzke, Tobias Moser

    Publicat 2022
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  7. 7
    METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

    METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway per Lan Ma, Xi Zhou, Siyue Yao, Xinyu Zhang, Ji Mao, Barbara Vona, Liwen Fan, Shu Lou, Dandan Li, Lin Wang, Yongchu Pan

    Publicat 2024
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  8. 8
    Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

    Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion per Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva‐Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, Rita Cauwels, Vivek Malhotra, Thomas Haaf

    Publicat 2020
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  9. 9
    <scp>DFNB16</scp> is a frequent cause of congenital hearing impairment: implementation of <i><scp>STRC</scp></i> mutation analysis in routine diagnostics

    <scp>DFNB16</scp> is a frequent cause of congenital hearing impairment: implementation of <i><scp>STRC</scp></i> mutation analysis in routine diagnostics per Barbara Vona, Michaela A. H. Hofrichter, Cordula Neuner, Jörg Schröder, Andrea Gehrig, Julia B. Hennermann, Fabian Kraus, Wafaa Shehata-Dieler, Eva Klopocki, I. Nanda, Thomas Haaf

    Publicat 2013
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  10. 10
    Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature

    Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature per Abolfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola Paoli Monteiro, Fernando Kok, Anneke T. Vulto‐van Silfhout, Michael C. Kruer, Michael R. Bowl, Barbara Vona

    Publicat 2024
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  11. 11
    Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

    Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations per Barbara Vona, Tobias Müller, Indrajit Nanda, Cordula Neuner, Michaela A. H. Hofrichter, Jörg Schröder, Oliver Bartsch, Anne Katrin Läßig, Annerose Keilmann, Sebastian P. Schraven, Fabian Kraus, Wafaa Shehata-Dieler, Thomas Haaf

    Publicat 2014
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  12. 12
    Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing

    Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing per Han Chen, Mehar Monga, Qinghua Fang, Loujin Slitin, Jakob Neef, Shashank Chepurwar, Regina Célia Mingroni‐Netto, Karina Lezirovitz, Alfredo Tabith, Fritz Benseler, Nils Brose, Kathrin Kusch, Carolin Wichmann, Nicola Strenzke, Barbara Vona, Julia Preobraschenski, Tobias Moser

    Publicat 2023
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  13. 13
    Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss

    Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss per Clara Mendia, Thibault Peineau, Mina Zamani, Chloé Felgerolle, Nawal Yahiaoui, Nele Christophersen, Samantha Papal, Audrey Maudoux, Reza Maroofian, Pranav Patni, Sylvie Nouaille, Michael R. Bowl, Sedigheh Delmaghani, Hamid Galehdari, Barbara Vona, Didier Dulon, Sandrine Vitry, A. Amraoui

    Publicat 2024
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  14. 14
    Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

    Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss per Anke Tropitzsch, Thore Schade‐Mann, Philipp Gamerdinger, S Dofek, Björn Schulte, Martin Schulze, Sarah Fehr, Saskia Biskup, Tobias B. Haack, Petra Stöbe, Andreas Heyd, Jennifer Harre, Anke Lesinski‐Schiedat, Andreas Büchner, Thomas Lenarz, Athanasia Warnecke, Marcus Müller, Barbara Vona, Ernst Dahlhoff, Hubert Löwenheim, Martin Holderried

    Publicat 2023
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  15. 15
    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 per Carola Hedberg‐Oldfors, Alexandra Abramsson, Daniel P. S. Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj, Evmorfia Petropoulou, Azza Shoreim, Barbara Vona, Najmeh Ahangari, Marcela Dávila López, Mohammad Doosti, Rakesh Kumar Banote, Reza Maroofian, Malin Edling, Mehdi Taherpour, Henrik Zetterberg, Ehsan Ghayoor Karimiani, Anders Oldfors, Yalda Jamshidi

    Publicat 2019
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  16. 16
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss per Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    Publicat 2022
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  17. 17
    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome

    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome per Stéphanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang, Mohamed S. Abdel‐Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S. Alkuraya, Maha S. Zaki, Mariasavina Severino, Kingsley C. Duru, Robert C. Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M. van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G. Nichols, Marie Falkenberg Smeland, Conor McClenaghan

    Publicat 2024
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  18. 18
    TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

    TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia per Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Al‐Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob Day, Thomas Courtin, Aisha Al‐Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S. Leslie, Claire Salter, Lettie E. Rawlins, James Fasham, Almundher Al‐Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R.S. Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L. Baple

    Publicat 2022
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  19. 19
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling per Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    Publicat 2020
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  20. 20
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy per Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Publicat 2022
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