58 results for Efthymiou,+Stephanie

58 results for Efthymiou,+Stephanie

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    Author / Creator:Cortese, Andrea ; Simone, Roberto ; Sullivan, Roisin ; Vandrovcova, Jana ; Tariq, Huma ; Yau, Wai Yan ; Humphrey, Jack ; Jaunmuktane, Zane ; Sivakumar, Prasanth ; Polke, James ; Ilyas, Muhammad ; Tribollet, Eloise ; Tomaselli, Pedro J. ; Devigili, Grazia ; Callegari, Ilaria ; Versino, Maurizio ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Kaski, Diego ; Wood, Nick W. ; Andrade, Nadja S. ; Buglo, Elena ; Rebelo, Adriana ; Rossor, Alexander M. ; Bronstein, Adolfo ; Fratta, Pietro ; Marques, Wilson J. ; Züchner, Stephan ; Reilly, Mary M. ; Houlden, Henry
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2019-04, Vol.51 (4), p.649-658
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    Author / Creator:Ilyas, Muhammad ; Mir, Asif ; Efthymiou, Stephanie ; Houlden, Henry
    Publisher:England: Faculty of 1000 Ltd
    Journal title:F1000 research, 2020, Vol.9, p.22
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    Author / Creator:Ilyas, Muhammad ; Efthymiou, Stephanie ; Salpietro, Vincenzo ; Noureen, Nuzhat ; Zafar, Faisal ; Rauf, Sobiah ; Mir, Asif ; Houlden, Henry
    Publisher:England: BioMed Central Ltd
    Journal title:BMC medical genetics, 2020-03, Vol.21 (1), p.59-8, Article 59
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    Author / Creator:Facchini, Stefano ; Dominik, Natalia ; Manini, Arianna ; Efthymiou, Stephanie ; Currò, Riccardo ; Rugginini, Bianca ; Vegezzi, Elisa ; Quartesan, Ilaria ; Perrone, Benedetta ; Kutty, Shahedah Koya ; Galassi Deforie, Valentina ; Schnekenberg, Ricardo P. ; Abati, Elena ; Pichiecchio, Anna ; Valente, Enza Maria ; Tassorelli, Cristina ; Reilly, Mary M. ; Houlden, Henry ; Bugiardini, Enrico ; Cortese, Andrea
    Publisher:Basel: MDPI AG
    Journal title:Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (10), p.1546
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    Author / Creator:Efthymiou, Stephanie ; Han, Wenyan ; Ilyas, Muhammad ; Li, Jun ; Yu, Yichao ; Scala, Marcello ; Malintan, Nancy T. ; Vavouraki, Nikoleta ; Mankad, Kshitij ; Maroofian, Reza ; Rocca, Clarissa ; Salpietro, Vincenzo ; Lakhani, Shenela ; Mallack, Eric J. ; Palculict, Timothy Blake ; Li, Hong ; Zhang, Guojun ; Zafar, Faisal ; Rana, Nuzhat ; Takashima, Noriko ; Matsunaga, Hayato ; Manzoni, Claudia ; Striano, Pasquale ; Lythgoe, Mark F. ; Aruga, Jun ; Lu, Wei ; Houlden, Henry
    Publisher:Switzerland: Frontiers Media SA
    Journal title:Front Mol Neurosci, 2024, Vol.17, p.1222935
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    Author / Creator:Efthymiou, Stephanie ; Lemmers, Richard J. L. F. ; Vishnu, Venugopalan Y. ; Dominik, Natalia ; Perrone, Benedetta ; Facchini, Stefano ; Vegezzi, Elisa ; Ravaglia, Sabrina ; Wilson, Lindsay ; van der Vliet, Patrick J. ; Mishra, Rinkle ; Reyaz, Alisha ; Ahmad, Tanveer ; Bhatia, Rohit ; Polke, James M. ; Srivastava, Mv Padma ; Cortese, Andrea ; Houlden, Henry ; van der Maarel, Silvère M. ; Hanna, Michael G. ; Bugiardini, Enrico
    Publisher:Switzerland: MDPI AG
    Journal title:Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (11), p.1567
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    Author / Creator:Bucknor, Eboni M. V. ; Johnson, Errin ; Efthymiou, Stephanie ; Alvi, Javeria R. ; Sultan, Tipu ; Houlden, Henry ; Maroofian, Reza ; Karimiani, Ehsan G. ; Finelli, Mattéa J. ; Oliver, Peter L.
    Publisher:Switzerland: MDPI AG
    Journal title:Antioxidants, 2024-06, Vol.13 (6), p.685
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    Author / Creator:Bettencourt, Conceição ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Chelban, Viorica ; Hughes, Deborah ; Pittman, Alan M. ; Federoff, Monica ; Bourinaris, Thomas ; Spilioti, Martha ; Deretzi, Georgia ; Kalantzakou, Triantafyllia ; Houlden, Henry ; Singleton, Andrew B. ; Xiromerisiou, Georgia
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2017-11, Vol.12 (1), p.172-7, Article 172
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    Author / Creator:Wang, Haicui ; Kaçar Bayram, Ayşe ; Sprute, Rosanne ; Ozdemir, Ozkan ; Cooper, Emily ; Pergande, Matthias ; Efthymiou, Stephanie ; Nedic, Ivana ; Mazaheri, Neda ; Stumpfe, Katharina ; Azizi Malamiri, Reza ; Shariati, Gholamreza ; Zeighami, Jawaher ; Bayram, Nurettin ; Naghibzadeh, Seyed Kianoosh ; Tajik, Mohamad ; Yaşar, Mehmet ; Sami Güven, Ahmet ; Bibi, Farah ; Sultan, Tipu ; Salpietro, Vincenzo ; Houlden, Henry ; Per, Hüseyin ; Galehdari, Hamid ; Shalbafan, Bita ; Jamshidi, Yalda ; Cirak, Sebahattin
    Publisher:Switzerland: Frontiers Media S.A
    Journal title:Frontiers in neuroscience, 2019-10, Vol.13, p.974
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    Author / Creator:Casto, Celeste ; Dipasquale, Valeria ; Ceravolo, Ida ; Gambadauro, Antonella ; Aliberto, Emanuela ; Galletta, Karol ; Granata, Francesca ; Ceravolo, Giorgia ; Falzia, Emanuela ; Riva, Antonella ; Piccolo, Gianluca ; Cutrupi, Maria Concetta ; Striano, Pasquale ; Accogli, Andrea ; Zara, Federico ; Di Rosa, Gabriella ; Gitto, Eloisa ; Calì, Elisa ; Efthymiou, Stephanie ; Salpietro, Vincenzo ; Houlden, Henry ; Chimenz, Roberto
    Publisher:Basel: MDPI AG
    Journal title:Brain sciences, 2021-08, Vol.11 (9), p.1150
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    Author / Creator:Efthymiou, Stephanie ; Novis, Luiz E. ; Koutsis, Georgios ; Koniari, Chrysoula ; Maroofian, Reza ; Turchetti, Valentina ; Velonakis, Georgios ; Vasconcellos, Luiz F. ; Raskin, Salmo ; Srinivasan, Varunvenkat M. ; Pagnamenta, Alistair T. ; Arun, Yaramanchanahalli B. ; Kinhal, Uddhava V. ; Gowda, Vykuntaraju K. ; Teive, Helio A. G. ; Houlden, Henry
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Annals of clinical and translational neurology, 2023-10, Vol.10 (10), p.1910-1916
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    Author / Creator:Bourinaris, Thomas ; Athanasiou Alkyoni ; Efthymiou, Stephanie ; Wiethoff, Sarah ; Salpietro Vincenzo ; Houlden, Henry
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.1027-1031
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    Author / Creator:Pauly, Martje G. ; Brüggemann, Norbert ; Efthymiou, Stephanie ; Grözinger, Anne ; Diaw, Sokhna Haissatou ; Chelban, Viorica ; Turchetti, Valentina ; Vona, Barbara ; Tadic, Vera ; Houlden, Henry ; Münchau, Alexander ; Lohmann, Katja
    Publisher:Switzerland: MDPI AG
    Journal title:International journal of molecular sciences, 2023-01, Vol.24 (3), p.1874
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    Author / Creator:Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza ; LaMonica, Lauren C. ; Seabra, Luis ; Siggervåg, Anette ; Devic, Perrine ; Shamseldin, Hanan E. ; Vandrovcova, Jana ; Murphy, David ; Richard, Anne-Claire ; Quenez, Olivier ; Bonnevalle, Antoine ; Zanetti, M. Natalia ; Kaiyrzhanov, Rauan ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Schottlaender, Lucia V. ; Morsy, Heba ; Scardamaglia, Annarita ; Tariq, Ambreen ; Pagnamenta, Alistair T. ; Pennavaria, Ajia ; Krogstad, Liv S. ; Bekkelund, Åse K. ; Caiella, Alessia ; Glomnes, Nina ; Brønstad, Kirsten M. ; Tury, Sandrine ; Moreno De Luca, Andrés ; Boland-Auge, Anne ; Olaso, Robert ; Deleuze, Jean-François ; Anheim, Mathieu ; Cretin, Benjamin ; Vona, Barbara ; Alajlan, Fahad ; Abdulwahab, Firdous ; Battini, Jean-Luc ; İpek, Rojan ; Bauer, Peter ; Zifarelli, Giovanni ; Gungor, Serdal ; Kurul, Semra Hiz ; Lochmuller, Hanns ; Da’as, Sahar I. ; Fakhro, Khalid A. ; Gómez-Pascual, Alicia ; Botía, Juan A. ; Wood, Nicholas W. ; Horvath, Rita ; Ernst, Andreas M. ; Rothman, James E. ; McEntagart, Meriel ; Crow, Yanick J. ; Alkuraya, Fowzan S. ; Nicolas, Gaël ; Arnesen, Thomas ; Houlden, Henry
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2024-03, Vol.15 (1), p.2269-20, Article 2269
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    Author / Creator:Harms, Frederike L ; Rexach, Jessica Erin ; Efthymiou, Stephanie ; Aynekin, Busra ; Per, Hüseyin ; Güleç, Ayten ; Nampoothiri, Sheela ; Sampaio, Hugo ; Sachdev, Rani ; Stoeva, Radka ; Myers, Kasiani ; Pena, Loren D. M ; Kalfa, Theodosia A ; Chard, Marisa ; Klassen, Megan ; Pries, Megan ; Kutsche, Kerstin
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.558-566
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    Author / Creator:Maroofian, Reza ; Efthymiou, Stephanie ; Suri, Mohnish ; Rahman, Fatima ; Zaki, Maha S ; Maqbool, Shazia ; Anwa, Najwa ; Ruiz-Pérez, Victor L ; Yanovsky-Dagan, Shira ; Elpeleg, Orly ; Sudhakar, Sniya ; Mankad, Kshitij ; Harel, Tamar ; Houlden, Henry
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2023-08, Vol.60 (8), p.791-796
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    Author / Creator:Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil ; Berdowski, Woutje M. ; Alsagob, Maysoon ; Capo, Ivan ; van der Linde, Herma C. ; van den Berg, Paul ; Jacobs, Edwin H. ; Putar, Darija ; Ghazvini, Mehrnaz ; Aronica, Eleonora ; van IJcken, Wilfred F. J. ; de Valk, Walter G. ; Medici-van den Herik, Evita ; van Slegtenhorst, Marjon ; Brick, Lauren ; Kozenko, Mariya ; Kohler, Jennefer N. ; Bernstein, Jonathan A. ; Monaghan, Kristin G. ; Begtrup, Amber ; Torene, Rebecca ; Al Futaisi, Amna ; Al Murshedi, Fathiya ; Mani, Renjith ; Al Azri, Faisal ; Kamsteeg, Erik-Jan ; Mojarrad, Majid ; Eslahi, Atieh ; Khazaei, Zaynab ; Darmiyan, Fateme Massinaei ; Doosti, Mohammad ; Karimiani, Ehsan Ghayoor ; Vandrovcova, Jana ; Zafar, Faisal ; Rana, Nuzhat ; Kandaswamy, Krishna K. ; Hertecant, Jozef ; Bauer, Peter ; AlMuhaizea, Mohammed A. ; Salih, Mustafa A. ; Aldosary, Mazhor ; Almass, Rawan ; Al-Quait, Laila ; Qubbaj, Wafa ; Coskun, Serdar ; Alahmadi, Khaled O. ; Hamad, Muddathir H. A. ; Alwadaee, Salem ; Awartani, Khalid ; Dababo, Anas M. ; Almohanna, Futwan ; Colak, Dilek ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Gunel, Murat ; Ercan-Sencicek, A. Gulhan ; Passi, Gouri Rao ; Cheema, Huma Arshad ; Efthymiou, Stephanie ; Houlden, Henry ; Bertoli-Avella, Aida M. ; Brooks, Alice S. ; Retterer, Kyle ; Maroofian, Reza ; Kaya, Namik ; van Ham, Tjakko J. ; Barakat, Tahsin Stefan
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Acta neuropathologica, 2020-03, Vol.139 (3), p.415-442
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    Author / Creator:Zaki, Maha S ; Accogli Andrea ; Ghayda, Mirzaa ; Rahman, Fatima ; Mohammed, Hiba ; Porras-Hurtado, Gloria Liliana ; Efthymiou, Stephanie ; Maqbool Shazia ; Shukla Anju ; Vincent, John B ; Hussain Abrar ; Mir Asif ; Beetz, Christian ; Leubauer Anika ; Houlden, Henry ; Gleeson, Joseph G ; Maroofian Reza
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1226-1234
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    Author / Creator:Woodward, Beth L. ; Lahiri, Sudipta ; Chauhan, Anoop S. ; Garcia, Marcos Rios ; Goodley, Lucy E. ; Clarke, Thomas L. ; Pal, Mohinder ; Agathanggelou, Angelo ; Jhujh, Satpal S. ; Ganesh, Anil N. ; Hollins, Fay M. ; Deforie, Valentina Galassi ; Maroofian, Reza ; Efthymiou, Stephanie ; Meinhardt, Andrea ; Mathew, Christopher G. ; Simpson, Michael A. ; Mefford, Heather C. ; Faqeih, Eissa A. ; Rosenzweig, Sergio D. ; Volpi, Stefano ; Di Matteo, Gigliola ; Cancrini, Caterina ; Scardamaglia, Annarita ; Shackley, Fiona ; Davies, E. Graham ; Ibrahim, Shahnaz ; Arkwright, Peter D. ; Zaki, Maha S. ; Stankovic, Tatjana ; Taylor, A. Malcolm R. ; Mazur, Antonina J. ; Di Donato, Nataliya ; Houlden, Henry ; Rothenberg, Eli ; Stewart, Grant S.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2025-05, Vol.16 (1), p.4491-20, Article 4491
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    Author / Creator:Moodley, Kaminie ; Moodley, Anandan A ; Efthymiou, Stephanie ; Houlden, Henry ; Bill, Pierre L A ; Patel, Vinod B ; Rinaldi, Simon
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Practical neurology, 2024-10, Vol.24 (5), p.422-427
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