학술논문
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'학술논문'
에서 검색결과 45건 | 목록
1~20
Academic Journal
Andrea Cortese; Sarah J. Beecroft; Stefano Facchini; Riccardo Curro; Macarena Cabrera-Serrano; Igor Stevanovski; Sanjog R. Chintalaphani; Hasindu Gamaarachchi; Ben Weisburd; Chiara Folland; Gavin Monahan; Carolin K. Scriba; Lein Dofash; Mridul Johari; Bianca R. Grosz; Melina Ellis; Liam G. Fearnley; Rick Tankard; Justin Read; Ashirwad Merve; Natalia Dominik; Elisa Vegezzi; Ricardo P. Schnekenberg; Gorka Fernandez-Eulate; Marion Masingue; Diane Giovannini; Martin B. Delatycki; Elsdon Storey; Mac Gardner; David J. Amor; Garth Nicholson; Steve Vucic; Robert D. Henderson; Thomas Robertson; Jason Dyke; Vicki Fabian; Frank Mastaglia; Mark R. Davis; Marina Kennerson; OPDM study group; Ros Quinlivan; Simon Hammans; Arianna Tucci; Melanie Bahlo; Catriona A. McLean; Nigel G. Laing; Tanya Stojkovic; Henry Houlden; Michael G. Hanna; Ira W. Deveson; Paul J. Lockhart; Phillipa J. Lamont; Michael C. Fahey; Enrico Bugiardini; Gianina Ravenscroft
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Academic Journal
Barnaby Hirons; Peter S.P. Cho; Katie Rhatigan; Joe Shaw; Riccardo Curro; Bianca Rugginini; Natalia Dominik; Richard D. Turner; Ewan Mackay; James H. Hull; Hisham Abubakar-Waziri; Harini Kesavan; Caroline J. Jolley; Robert D. Hadden; Andrea Cortese; Surinder S. Birring
ERJ Open Research, Vol 11, Iss 1 (2025)
Academic Journal
Huihui Luo; Emil K. Gustavsson; Hannah Macpherson; Natalia Dominik; Kristina Zhelcheska; Kylie Montgomery; Claire Anderson; Wai Yan Yau; Stephanie Efthymiou; Chris Turner; Michael DeTure; Dennis W. Dickson; Keith A. Josephs; Tamas Revesz; Tammaryn Lashley; Glenda Halliday; Dominic B. Rowe; Emily McCann; Ian Blair; Andrew J. Lees; Pentti J. Tienari; Anu Suomalainen; Laura Molina-Porcel; Gabor G. Kovacs; Ellen Gelpi; John Hardy; Matti J. Haltia; Arianna Tucci; Zane Jaunmuktane; Mina Ryten; Henry Houlden; Zhongbo Chen
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-6 (2024)
Academic Journal
Christina Zarouchlioti; Stephanie Efthymiou; Stefano Facchini; Natalia Dominik; Nihar Bhattacharyya; Siyin Liu; Marcos Abreu Costa; Anita Szabo; Amanda N. Sadan; Albert S. Jun; Enrico Bugiardini; Henry Houlden; Andrea Cortese; Pavlina Skalicka; Lubica Dudakova; Kirithika Muthusamy; Michael E. Cheetham; Alison J. Hardcastle; Petra Liskova; Stephen J. Tuft; Alice E. Davidson
EBioMedicine, Vol 108, Iss , Pp 105328- (2024)
Academic Journal
Ikram Ullah; Muhammad Waqas; Muhammad Ilyas; Sobia Ahsan Halim; Akmal Ahmad; Natalia Dominik; Wahid Ullah; Muhammad Abbas; Muhammad Aamir; Henry Houlden; Stephanie Efthymiou; Ajmal Khan; Ahmed Al-Harrasi
Genes and Diseases, Vol 10, Iss 6, Pp 2263-2266 (2023)
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
Andrea Cortese; Sarah J. Beecroft; Stefano Facchini; Riccardo Curro; Macarena Cabrera-Serrano; Igor Stevanovski; Sanjog R. Chintalaphani; Hasindu Gamaarachchi; Ben Weisburd; Chiara Folland; Gavin Monahan; Carolin K. Scriba; Lein Dofash; Mridul Johari; Bianca R. Grosz; Melina Ellis; Liam G. Fearnley; Rick Tankard; Justin Read; Ashirwad Merve; Natalia Dominik; Elisa Vegezzi; Ricardo P. Schnekenberg; Gorka Fernandez-Eulate; Marion Masingue; Diane Giovannini; Martin B. Delatycki; Elsdon Storey; Mac Gardner; David J. Amor; Garth Nicholson; Steve Vucic; Robert D. Henderson; Thomas Robertson; Jason Dyke; Vicki Fabian; Frank Mastaglia; Mark R. Davis; Marina Kennerson; OPDM study group; Ros Quinlivan; Simon Hammans; Arianna Tucci; Melanie Bahlo; Catriona A. McLean; Nigel G. Laing; Tanya Stojkovic; Henry Houlden; Michael G. Hanna; Ira W. Deveson; Paul J. Lockhart; Phillipa J. Lamont; Michael C. Fahey; Enrico Bugiardini; Gianina Ravenscroft
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Academic Journal
Stefano Facchini; Natalia Dominik; Arianna Manini; Stephanie Efthymiou; Riccardo Currò; Bianca Rugginini; Elisa Vegezzi; Ilaria Quartesan; Benedetta Perrone; Shahedah Koya Kutty; Valentina Galassi Deforie; Ricardo P. Schnekenberg; Elena Abati; Anna Pichiecchio; Enza Maria Valente; Cristina Tassorelli; Mary M. Reilly; Henry Houlden; Enrico Bugiardini; Andrea Cortese
Biomolecules, Vol 13, Iss 10, p 1546 (2023)
Academic Journal
Stephanie Efthymiou; Richard J. L. F. Lemmers; Venugopalan Y. Vishnu; Natalia Dominik; Benedetta Perrone; Stefano Facchini; Elisa Vegezzi; Sabrina Ravaglia; Lindsay Wilson; Patrick J. van der Vliet; Rinkle Mishra; Alisha Reyaz; Tanveer Ahmad; Rohit Bhatia; James M. Polke; Mv Padma Srivastava; Andrea Cortese; Henry Houlden; Silvère M. van der Maarel; Michael G. Hanna; Enrico Bugiardini
Biomolecules, Vol 13, Iss 11, p 1567 (2023)
Academic Journal
Natalia Dominik; Stephanie Efthymiou; Christopher J. Record; Xinyu Miao; Renee Q. Lin; Jevin M. Parmar; Annarita Scardamaglia; Reza Maroofian; Simon A. Lowe; Gabriel N. Aughey; Abigail D. Wilson; Riccardo Curro; Ricardo P. Schnekenberg; Shahryar Alavi; Leif Leclaire; Yi He; Kristina Zhelcheska; Yohanns Bellaiche; Isabelle Gaugué; Mariola Skorupinska; Liedewei Van de Vondel; Sahar I. Da'as; Valentina Turchetti; Serdal Güngör; Gavin V. Monahan; Ehsan Ghayoor Karimiani; Yalda Jamshidi; Phillipa J. Lamont; Camila Armirola-Ricaurte; Haluk Topaloglu; Albena Jordanova; Mashaya Zaman; Selina H. Banu; Wilson Marques; Pedro J. Tomaselli; Busra Aynekin; Ali Cansu; Huseyin Per; Ayten Güleç; Javeria Raza Alvi; Tipu Sultan; Arif Khan; Giovanni Zifarelli; Shahnaz Ibrahim; Grazia M. S. Mancini; M.M. Motazacker; Esther Brusse; Vincenzo Lupo; Teresa Sevilla; A. Nazli Başak; Seyma Tekgul; Robin J. Palvadeau; Jonathan Baets; Yesim Parman; Arman Çakar; Rita Horvath; Tobias B. Haack; Jan-Hendrik Stahl; Kathrin Grundmann-Hauser; Joohyun Park; Stephan Zuchner; Nigel G. Laing; Lindsay A. Wilson; Alexander M. Rossor; James Polke; Fernanda Barbosa Figueiredo; André Pessoa; Fernando Kok; Antônio Rodrigues Coimbra-Neto; Marcondes C. Franca Jr; Gianina Ravenscroft; Sherifa A. Hamed; Wendy K. Chung; Alan M. Pittman; Daniel P. Osborn; Michael Hanna; Andrea Cortese; Mary M. Reilly; James E.C. Jepson; Nathalie Lamarche-Vane; Henry Houlden
Journal of Clinical Investigation.
Academic Journal
Ilaria Quartesan; Stefano Facchini; Arianna Manini; Ricardo Parolin Schnekenberg; Chiara Pisciotta; Stefania Magri; Sara Negri; Carlo Gaetano; Adriana Rebelo; Jacquelyn Schatzman Raposo; Radim Mazanec; Riccardo Curro; Natalia Dominik; Stephanie Efthymiou; Matilde Laura; Tiffany Grider; Shawna ME Feely; Vera Fridman; Alessandro Bertini; Gustavo M Alves; Lucia Ferullo; Arianna Ghia; Claudio Caccia; Francesca Balistreri; Paola Saveri; Luca Crivellari; Isabella Moroni; Federica R Danti; Tiziana Mongini; Franco Taroni; Michaela Auer-Grumbach; Enrico Bugiardini; James N Sleigh; Arianna Tucci; Henry Houlden; Petra Lassuthova; Anna Basile; Elisa Giorgio; Michael E Shy; Stephan Zuchner; Mary M Reilly; Davide Pareyson; Andrea Cortese
Academic Journal
Allan Bayat; Maria Carla Borroto; Smrithi Salian; Maha S. Zaki; Hind Benkerroum; Hasnaa M. Elbendary; Thi Tuyet Mai Nguyen; Abdelrahim A. Sadek; Diana Carli; Alfredo Brusco; Giovanni Battista Ferrero; Marco Tartaglia; Eleanor Hay; Ilona Krey; Rami A. Jamra; Tobias Bartolomaeus; Alexej Knaus; Joseph G. Gleeson; Henry Houlden; Natalia Dominik; Adam Jackson; Sofia Douzgou Houge; Siddharth Banka; Javad Mohammadi-asl; Mohammadreza Hajjari; Reza Azizimalamiri; Pardis Nourbakhsh; Mostafa Neissi; Annarita Scardamaglia; Dianfan Li; Taroh Kinoshita; Reza Maroofian; Yoshiko Murakami; Philippe M. Campeau
Bayat, A, Borroto, M C, Salian, S, Zaki, M S, Benkerroum, H, Elbendary, H M, Nguyen, T T M, Sadek, A A, Carli, D, Brusco, A, Ferrero, G B, Tartaglia, M, Hay, E, Krey, I, A Jamra, R, Bartolomaeus, T, Knaus, A, Gleeson, J G, Houlden, H, Dominik, N, Jackson, A, Douzgou Houge, S, Banka, S, Mohammadi-Asl, J, Hajjari, M, Azizimalamiri, R, Nourbakhsh, P, Neissi, M, Scardamaglia, A, Li, D, Kinoshita, T, Maroofian, R, Murakami, Y & Campeau, P M 2025, 'PIGC-related encephalopathy : Lessons learned from 18 new probands', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01923-9
Academic Journal
Hayat Khan; Muhammad Ilyas; Hina Qasim; Humaira Zeb; Muhammad Israr; Amjad Iqbal; Ahmad Ullah; Atta Ullah; Natalia Dominik; Henry Houlden; Stephanie Efthymiou; Muhammad Tariq
Neurogenetics. 26
Academic Journal
M. Leonor Bustamante; Marcelo Miranda; David Pellerin; Mariana Barreto; Claudia Silva; Ana Miranda; Benjamín Pizarro-Galleguillos; Octavio Azaldegui; Valentina Besa; Francisca Canals; María Eugenia Contreras; Marie-Josée Dicaire; Natalia Dominik; Pablo Iruzubieta; Matt C. Danzi; Stephan Zuchner; Henry Houlden; Bernard Brais; Ramiro Fernández; José Fuentes Manríquez; Javiera Gajardo; Javiera León; Camila Melo; Daniela Muñoz; Ximena Pizarro; Pablo Rodríguez; Philippe Salles; Camilo Sepúlveda; José Miguel Tirapegui; Daniel Valenzuela; Felipe Vial; Patricia Orellana Pineda; Cristian Garrido; Gonzalo Miranda
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Academic Journal
Venugopalan Y. Vishnu; Richard J. L. F. Lemmers; Alisha Reyaz; Rinkle Mishra; Tanveer Ahmad; Patrick J. van der Vliet; Marcelina M. Kretkiewicz; William L. Macken; Stephanie Efthymiou; Natalia Dominik; Jasper M. Morrow; Rohit Bhatia; Lindsay A. Wilson; Henry Houlden; Michael G. Hanna; Enrico Bugiardini; Silvère M. van der Maarel; M. V. Padma Srivastava
Eur J Hum Genet
Academic Journal
Ralf A Husain; Xinfu Jiao; J Christopher Hennings; Jan Giesecke; Geeta Palsule; Stefanie Beck-Wödl; Dina Osmanović; Kathrine Bjørgo; Asif Mir; Muhammad Ilyas; Saad M Abbasi; Stephanie Efthymiou; Natalia Dominik; Reza Maroofian; Henry Houlden; Julia Rankin; Alistair T Pagnamenta; Marwan Nashabat; Waleed Altwaijri; Majid Alfadhel; Muhammad Umair; Ebtissal Khouj; William Reardon; Ayman W El-Hattab; Mohammed Mekki; Gunnar Houge; Christian Beetz; Peter Bauer; Audrey Putoux; Gaetan Lesca; Damien Sanlaville; Fowzan S Alkuraya; Robert W Taylor; Hans-Joachim Mentzel; Christian A Hübner; Peter Huppke; Ronald P Hart; Tobias B Haack; Megerditch Kiledjian; Ignacio Rubio
Brain. 147:1197-1205
Academic Journal
Ilaria Quartesan; Elisa Vegezzi; Riccardo Currò; Amanda Heslegrave; Chiara Pisciotta; Pablo Iruzubieta; Alessandro Salvalaggio; Gorka Fernández‐Eulate; Natalia Dominik; Bianca Rugginini; Arianna Manini; Elena Abati; Stefano Facchini; Katarina Manso; Ines Albajar; Rhiannon Laban; Alexander M. Rossor; Anna Pichiecchio; Giuseppe Cosentino; Paola Saveri; Ettore Salsano; Francesca Andreetta; Enza M. Valente; Henrik Zetterberg; Paola Giunti; Tanya Stojkovic; Chiara Briani; Adolfo López de Munain; Davide Pareyson; Mary M. Reilly; Henry Houlden; Cristina Tassorelli; Andrea Cortese
Mov Disord
Academic Journal
Franclo Henning; Kireshnee Naidu; Christopher J. Record; Natalia Dominik; Jana Vandrovcova; Frans Lubbe; Marli Dercksen; Lindsay A. Wilson; Francois Van Der Westhuizen; Mary M. Reilly; Henry Houlden; Michael G. Hanna; Jonathan Carr
Mov Disord Clin Pract
Academic Journal
Zhongbo Chen; Amy Hicks; Jonathan Brenton; Melissa Grant-Peters; Regina H. Reynolds; Emil K. Gustavsson; Clarissa Rocca; Guillermo Rocamora-Perez; Raquel Garza; Sonia Garcia-Ruiz; Natalia Dominik; Claire Anderson; Toby Curless; Kylie Montgomery; Hannah Macpherson; Suran Nethisinghe; Daria Gavriouchkina; Modesta Blunskyte-Hendley; Aine Fairbrother-Browne; Jasmaine Lee; Huihui Luo; Stephanie Efthymiou; David Murphy; Fairlie Hinton; Juan Botia; Andrea Cortese; Nicholas Wood; Paola Giunti; John Hardy; Johan Jakobsson; Sonia Gandhi; Arianna Tucci; Catriona McLean; Zane Jaunmuktane; Henry Houlden; Mina Ryten
Academic Journal
Francesca Magrinelli; Lucie S Taylor; Sahar Sedighzadeh; Dalila Moualek; Mariasavina Severino; Daniel N Grba; Charlotte L Alston; Michael Champion; Ali Reza Tavasoli; Karine Lascelles; Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Sahand Tehrani Fateh; Mohammad Kordi-Tamandani; Ali Khajeh; Saeedeh Yaghoubi; Natalia Dominik; Meisam Babaei; Mohsen Javadzadeh; Jamileh Rezazadeh Varaghchi; Mohammad Miryounesi; Ehsan Ghayoor Karimiani; Meriem Tazir; Lamia Ali Pacha; Kailash P Bhatia; Robert W Taylor; Henry Houlden; Reza Maroofian
Brain Commun
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