학술논문
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'학술논문'
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1~20
Academic Journal
Drug Science, Policy and Law. 11
Academic Journal
OBM Integrative and Complementary Medicine. :1-18
Academic Journal
Elisa Calì; Sheng-Jia Lin; Clarissa Rocca; Yavuz Sahin; Aisha Al Shamsi; Salima El Chehadeh; Myriam Chaabouni; Kshitij Mankad; Evangelia Galanaki; Stephanie Efthymiou; Sniya Sudhakar; Alkyoni Athanasiou-Fragkouli; Tamer Çelik; Nejat Narlı; Sebastiano Bianca; David Murphy; Francisco Martins De Carvalho Moreira; Michael G. Hannah; Enrico Bugiardini; Yamna Kriouile; Mohamed El Khorassani; Mhammed Aguennouz; Stanislav Groppa; Blagovesta Marinova Karashova; Gabriella Di Rosa; Jatinder S. Goraya; Tipu Sultan; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Pierangelo Veggiotti; Alberto Verrotti; Salvatore Savasta; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Savvas Papacostas; Chiara Compagnoni; Alessandra Piccirilli; Michail Vikelis; Viorica Chelban; Rauan Kaiyrzhanov; Andrea Cortese; Roisin Sullivan; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; Shen-Yang Lim; Farooq Shaikh; Annarita Scardamaglia; George Koutsis; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Massimo Zollo; Gali Heimer; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Fowzan S. Alkuraya; Mie Rizig; Chingiz Shashkin; Nazira Zharkynbekova; Kairgali Koneyev; Ganieva Manizha; Maksud Isrofilov; Ulviyya Guliyeva; Kamran Salayev; Samson Khachatryan; Georgia Xiromerisiou; Cleanthe Spanaki; Arianna Tucci; Chiara Fiorillo; Federico Rissotto; Francina Munell; Antonella Gagliano; Farida Jan; Roberto Chimenz; Eloisa Gitto; Caterina Cuppari; Carmelo Romeo; Francesca Magrinelli; Neerja Gupta; Madhulika Kabra; Hanene Benrhouma; Meriem Tazir; Luca Zagaroli; Claudia Caloisi; Cecilia Fabiano; Gabriella Bottone; Giovanni Farello; Sandra Di Fabio; Makram Obeid; Sophia Bakhtadze; Nebal W. Saadi; Maha S. Zaki; Chahnez C. Triki; Majdi Kara; Vincenzo Belcastro; Nicola Specchio; Ehsan G. Karimiani; Ahmed M. Salih; Luca A. Ramenghi; Emanuele David; Riccardo Curró; Maria Laura Iezzi; Giulia Iapadre; Giuliana Nanni; Giovanna Scorrano; Maria F. Fiorile; Francesco Brancati; Giovanna Di Falco; Luana Mandarà; Giuseppe Barrano; Maurizio Elia; Gaetano Terrone; Francesca F. Operto; Mariella Valenzise; Ylenia Della Rocca; Francesca Zazzeroni; Edoardo Alesse; Filippo Manti; Serena Galosi; Francesca Nardecchia; Vincenzo Leuzzi; Erica Pironti; Greta Amore; Giorgia Ceravolo; Faisal Zafar; Ehsan Ullah; Erum Afzal; Iram Javed; Fatima Rahman; Muhammad Mehboob Ahmed; Pasquale Parisi; Paola Borgia; Giuseppe D. Mangano; Francesco Chiarelli; Queen Square Genomics; null Andrea Accogli; Cassidy Petree; Kevin Huang; Kamel Monastiri; Masoud Edizadeh; Rosaria Nardello; Marzia Ognibene; Patrizia De Marco; Martino Ruggieri; Federico Zara; Yavuz Şahin; Lihadh Al-Gazali; Marie Therese Abi Warde; Benedicte Gerard; Giovanni Zifarelli; Christian Beetz; Sara Fortuna; Miguel Soler; Enza Maria Valente; Gaurav Varshney; Reza Maroofian; Vincenzo Salpietro; Henry Houlden
Genet Med
Academic Journal
Psychoactives, Vol 4, Iss 2, p 16 (2025)
Academic Journal
Lindsey Van Haute; Emily O’Connor; Héctor Díaz-Maldonado; Benjamin Munro; Kiran Polavarapu; Daniella H. Hock; Gautham Arunachal; Alkyoni Athanasiou-Fragkouli; Mainak Bardhan; Magalie Barth; Dominique Bonneau; Nicola Brunetti-Pierri; Gerarda Cappuccio; Nikeisha J. Caruana; Natalia Dominik; Himanshu Goel; Guy Helman; Henry Houlden; Guy Lenaers; Karine Mention; David Murphy; Bevinahalli Nandeesh; Catarina Olimpio; Christopher A. Powell; Veeramani Preethish-Kumar; Vincent Procaccio; Rocio Rius; Pedro Rebelo-Guiomar; Cas Simons; Seena Vengalil; Maha S. Zaki; Alban Ziegler; David R. Thorburn; David A. Stroud; Reza Maroofian; John Christodoulou; Claes Gustafsson; Atchayaram Nalini; Hanns Lochmüller; Michal Minczuk; Rita Horvath
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Academic Journal
BJPsych Open, Vol 10 (2024)
Academic Journal
Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; null, null; Rodriguez, Aixa; Bacha, Alexa; Kosikowski, Ashley; Wood, Beth; McCray, Brett; Blume, Brianna; Siskind, Carly; Sumner, Charlotte; Calabrese, Daniela; Walk, David; Vujovic, Dragan; Park, Eun; Muntoni, Francesco; Donlevy, Gabrielle; Acsadi, Gyula; Day, John; Burns, Joshua; Li, Jun; Krajewski, Karen; Eichinger, Kate; Cornett, Kayla; Mullen, Krista; Laura, Perez Quiros; Gutmann, Laurie; Barrett, Maria; Saporta, Mario; Skorupinska, Mariola; Grant, Natalie; Bray, Paula; Seyedsadjadi, Reza; Zuccarino, Riccardo; Finkel, Richard; Lewis, Richard; Shy, Rosemary R.; Yum, Sabrina; Hilbert, Sarah; Thomas, Simone; Behrens-Spraggins, Steffen; Jones, Tara; Lloyd, Thomas; Grider, Tiffany; Estilow, Tim; Fridman, Vera; Isasi, Rosario; Khan, Alaa; Laurà, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schüle, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan
Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4
Academic Journal
Breza, Marianthi; Hirst, Jennifer; Chelban, Viorica; Banneau, Guillaume; Tissier, Laurène; Kol, Bophara; Bourinaris, Thomas; Said, Samia A; Péréon, Yann; Heinzmann, Anna; Debs, Rabab; Juntas-Morales, Raul; Martinez, Victoria G; Camdessanche, Jean P; Scherer-Gagou, Clarisse; Zola, Jean-Médard; Athanasiou-Fragkouli, Alkyoni; Efthymiou, Stephanie; Vavougios, George; Velonakis, Georgios; Stamelou, Maria; Tzartos, John; Potagas, Constantin; Zambelis, Thomas; Mariotti, Caterina; Blackstone, Craig; Vandrovcova, Jana; Mavridis, Theodoros; Kartanou, Chrisoula; Stefanis, Leonidas; Wood, Nicholas; Karadima, Georgia; LeGuern, Eric; Koutsis, Georgios; Houlden, Henry; Stevanin, Giovanni
Movement Disorders. 36:1034-1038
Academic Journal
Bourinaris, Thomas; Smedley, Damian; Cipriani, Valentina; Sheikh, Isabella; Athanasiou-Fragkouli, Alkyoni; Chinnery, Patrick; Morris, Huw; Real, Raquel; Harrison, Victoria; Reid, Evan; Wood, Nicholas; Genomics England Research Consortium; Vandrovcova, Jana; Houlden, Henry; Tucci, Arianna
Eur J Hum Genet
Academic Journal
Zhongbo Chen; Wai Yan Yau; Zane Jaunmuktane; Arianna Tucci; Prasanth Sivakumar; Sarah A. Gagliano Taliun; Chris Turner; Stephanie Efthymiou; Kristina Ibáñez; Roisin Sullivan; Farah Bibi; Alkyoni Athanasiou‐Fragkouli; Thomas Bourinaris; David Zhang; Tamas Revesz; Tammaryn Lashley; Michael DeTure; Dennis W. Dickson; Keith A. Josephs; Ellen Gelpi; Gabor G. Kovacs; Glenda Halliday; Dominic B. Rowe; Ian Blair; Pentti J. Tienari; Anu Suomalainen; Nick C. Fox; Nicholas W. Wood; Andrew J. Lees; Matti J. Haltia; Genomics England Research Consortium; John Hardy; Mina Ryten; Jana Vandrovcova; Henry Houlden
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Academic Journal
Andreea Manole; Stephanie Efthymiou; Emer O’Connor; Marisa I. Mendes; Matthew Jennings; Reza Maroofian; Indran Davagnanam; Kshitij Mankad; Maria Rodriguez Lopez; Vincenzo Salpietro; Ricardo Harripaul; Lauren Badalato; Jagdeep Walia; Christopher S. Francklyn; Alkyoni Athanasiou-Fragkouli; Roisin Sullivan; Sonal Desai; Kristin Baranano; Faisal Zafar; Nuzhat Rana; Muhammed Ilyas; Alejandro Horga; Majdi Kara; Francesca Mattioli; Alice Goldenberg; Helen Griffin; Amelie Piton; Lindsay B. Henderson; Benyekhlef Kara; Ayca Dilruba Aslanger; Joost Raaphorst; Rolph Pfundt; Ruben Portier; Marwan Shinawi; Amelia Kirby; Katherine M. Christensen; Lu Wang; Rasim O. Rosti; Sohail A. Paracha; Muhammad T. Sarwar; Dagan Jenkins; Jawad Ahmed; Federico A. Santoni; Emmanuelle Ranza; Justyna Iwaszkiewicz; Cheryl Cytrynbaum; Rosanna Weksberg; Ingrid M. Wentzensen; Maria J. Guillen Sacoto; Yue Si; Aida Telegrafi; Marisa V. Andrews; Dustin Baldridge; Heinz Gabriel; Julia Mohr; Barbara Oehl-Jaschkowitz; Sylvain Debard; Bruno Senger; Frédéric Fischer; Conny van Ravenwaaij; Annemarie J.M. Fock; Servi J.C. Stevens; Jürg Bähler; Amina Nasar; John F. Mantovani; Adnan Manzur; Anna Sarkozy; Desirée E.C. Smith; Gajja S. Salomons; Zubair M. Ahmed; Shaikh Riazuddin; Saima Riazuddin; Muhammad A. Usmani; Annette Seibt; Muhammad Ansar; Stylianos E. Antonarakis; John B. Vincent; Muhammad Ayub; Mona Grimmel; Anne Marie Jelsig; Tina Duelund Hjortshøj; Helena Gásdal Karstensen; Marybeth Hummel; Tobias B. Haack; Yalda Jamshidi; Felix Distelmaier; Rita Horvath; Joseph G. Gleeson; Hubert Becker; Jean-Louis Mandel; David A. Koolen; Henry Houlden
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou -Fragkouli , A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, 'De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects', American journal of human genetics, vol. 107, no. 2, pp. 311-324. https://doi.org/10.1016/j.ajhg.2020.06.016
American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107, 2, pp. 311-324
Academic Journal
Lucia V. Schottlaender; Rosella Abeti; Zane Jaunmuktane; Carol Macmillan; Viorica Chelban; Benjamin O’Callaghan; John McKinley; Reza Maroofian; Stephanie Efthymiou; Alkyoni Athanasiou-Fragkouli; Raeburn Forbes; Marc P.M. Soutar; John H. Livingston; Bernardett Kalmar; Orlando Swayne; Gary Hotton; Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Gabriella Di Rosa; Jatinder S. Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D. Ferrari; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimi Zollo; Gali Heimer; Yves A. Dauvilliers; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Hamed Sherifa; Alan Pittman; João Ricardo Mendes de Oliveira; Maria de Grandis; Angela Richard-Loendt; Francesca Launchbury; Juri Althonayan; Gavin McDonnell; Aisling Carr; Suliman Khan; Christian Beetz; Atil Bisgin; Sevcan Tug Bozdogan; Amber Begtrup; Erin Torti; Linda Greensmith; Paola Giunti; Patrick J. Morrison; Sebastian Brandner; Michel Aurrand-Lions; Henry Houlden
Am J Hum Genet
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
American journal of human genetics
United Kingdom
United States
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
American journal of human genetics
United Kingdom
United States
Academic Journal
Drug Science, Policy and Law. 9
Academic Journal
Kylie O’Brien; Justin Beilby; Michelle Frans; Michael Lynskey; Michael Barnes; Mihindu Jayasuriya; Alkyoni Athanasiou-Fragkouli; Philip Blair; David Nutt
Drug Science, Policy and Law. 9
Academic Journal
Anne Katrin Schlag; Rayyan R. Zafar; Michael T. Lynskey; Alkyoni Athanasiou-Fragkouli; Lawrence D. Phillips; David J. Nutt
Frontiers in Psychiatry, Vol 13 (2022)
Academic Journal
Anne Katrin Schlag; Michael Lynskey; Alan Fayaz; Alkyoni Athanasiou-Fragkouli; Brigitta Brandner; Barbara Haja; Elizabeth Iveson; David J. Nutt
Frontiers in Pain Research, Vol 3 (2022)
Academic Journal
Skorvanek, Matej; Rizig, Mie; Athanasiou-Fragkouli, Alkyoni; Necpal, Jan; Straka, Igor; Tamas, Gertrud; Kurca, Egon; Mosejova, Alexandra; Han, Vladimir; Lorincova, Tatiana; Ostrozovicova, Miriam; Liesenerova, Simona; Levicka, Petra; Fajcikova, Lucia; Minar, Michal; Valkovic, Peter; Mákos, Orsolya; Kelemen, Andrea; Grofik, Milan; Cibulka, Michal; Jama, Fatumah; Houlden, Henry; Sendekova, Daniela; Cobejova, Jana; Cobej, Martin; Sukovska, Viktoria; Pálvölgyi, Károlyné; Kovacs, Norbert; Pintér, David; Ruzicka, Evzen; Holly, Petr; Dusek, Petr; Starkova, Irena; Brdkova, Jana; Smilowska, Katarzyna; Falup-Pecurariu, Cristian; Diaconu, Stefania; Klivenyi, Peter; Balaz, Marek
Parkinsonism and Related Disorders. 83:110-112
Academic Journal
Rizig, Mie ; Ojo, Oluwadamilola O. ; Athanasiou-Fragkouli, Alkyoni ; Agabi, Osigwe P. ; Oshinaike, Olajumoke O. ; Houlden, Henry ; Okubadejo, Njideka U.
In Neurobiology of Aging March 2021 99:101-101
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