학술논문
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'학술논문'
에서 검색결과 63건 | 목록
1~20
Academic Journal
Alexanne Cuillerier; Giulia F. Del Gobbo; Layla Mackay; Erika Wall; Madeline Couse; Laura M. McDonell; Mireille Cloutier; Matt C. Danzi; Jodi Warman‐Chardon; Pierre R. Bourque; Oksana Suchowersky; Alan Mears; Luke Seldenthuis; Wendy Mears; Laura Larrigan; Alexandre White‐Brown; Gerald Pfeffer; Dennis E. Bulman; David Dyment; Care4Rare Canada Consortium; Kym M. Boycott
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1118-1125 (2025)
Academic Journal
Maike F. Dohrn; Guney Bademci; Adriana P. Rebelo; Médéric Jeanne; Nicholas A. Borja; Danique Beijer; Matt C. Danzi; Stephanie A. Bivona; Paul Gueguen; Mohammad F. Zafeer; Undiagnosed Diseases Network; Mustafa Tekin; Stephan Züchner
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)
Academic Journal
Sarah Fazal; Matt C. Danzi; Isaac Xu; Shilpa Nadimpalli Kobren; Shamil Sunyaev; Chloe Reuter; Shruti Marwaha; Matthew Wheeler; Egor Dolzhenko; Francesca Lucas; Stefan Wuchty; Mustafa Tekin; Stephan Züchner; Vanessa Aguiar-Pulido
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
Academic Journal
Vicente Quiroz; Laura Planas-Serra; Abigail Sveden; Amy Tam; Hyo-Min Kim; Umar Zubair; Dario Resch; Afshin Saffari; Matt C. Danzi; Stephan Züchner; Maya Chopra; Luca Schierbaum; Aurora Pujol; Erik A. Eklund; Darius Ebrahimi-Fakhari
The Journal of Clinical Investigation, Vol 134, Iss 17 (2024)
Academic Journal
Matt C. Danzi; Maike F. Dohrn; Sarah Fazal; Danique Beijer; Adriana P. Rebelo; Vivian Cintra; Stephan Züchner
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Academic Journal
Céline Bonnet; David Pellerin; Virginie Roth; Guillemette Clément; Marion Wandzel; Laëtitia Lambert; Solène Frismand; Marian Douarinou; Anais Grosset; Ines Bekkour; Frédéric Weber; Florent Girardier; Clément Robin; Stéphanie Cacciatore; Myriam Bronner; Carine Pourié; Natacha Dreumont; Salomé Puisieux; Pablo Iruzubieta; Marie-Josée Dicaire; François Evoy; Marie-France Rioux; Armand Hocquel; Roberta La Piana; Matthis Synofzik; Henry Houlden; Matt C. Danzi; Stephan Zuchner; Bernard Brais; Mathilde Renaud
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Academic Journal
David Pellerin; Felix Heindl; Carlo Wilke; Matt C. Danzi; Andreas Traschütz; Catherine Ashton; Marie-Josée Dicaire; Alexanne Cuillerier; Giulia Del Gobbo; Kym M. Boycott; Jens Claassen; Dan Rujescu; Annette M. Hartmann; Stephan Zuchner; Bernard Brais; Michael Strupp; Matthis Synofzik
EBioMedicine, Vol 102, Iss , Pp 105076- (2024)
Academic Journal
Riwei Ouyang; Linlin Wan; David Pellerin; Zhe Long; Jian Hu; Qian Jiang; Chunrong Wang; Linliu Peng; Huirong Peng; Lang He; Rong Qiu; Junling Wang; Jifeng Guo; Lu Shen; Bernard Brais; Matt C. Danzi; Stephan Zuchner; Beisha Tang; Zhao Chen; Hong Jiang
EBioMedicine, Vol 102, Iss , Pp 105077- (2024)
Academic Journal
David Pellerin; Matt C. Danzi; Mathilde Renaud; Henry Houlden; Matthis Synofzik; Stephan Zuchner; Bernard Brais
Clinical and Translational Medicine, Vol 14, Iss 1, Pp n/a-n/a (2024)
Academic Journal
Egor Dolzhenko; Ben Weisburd; Kristina Ibañez; Indhu-Shree Rajan-Babu; Christine Anyansi; Mark F. Bennett; Kimberley Billingsley; Ashley Carroll; Samuel Clamons; Matt C. Danzi; Viraj Deshpande; Jinhui Ding; Sarah Fazal; Andreas Halman; Bharati Jadhav; Yunjiang Qiu; Phillip A. Richmond; Christopher T. Saunders; Konrad Scheffler; Joke J. F. A. van Vugt; Ramona R. A. J. Zwamborn; Genomics England Research Consortium; Samuel S. Chong; Jan M. Friedman; Arianna Tucci; Heidi L. Rehm; Michael A. Eberle
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Academic Journal
Francesco De Virgiliis; Thomas H. Hutson; Ilaria Palmisano; Sarah Amachree; Jian Miao; Luming Zhou; Rositsa Todorova; Richard Thompson; Matt C. Danzi; Vance P. Lemmon; John L. Bixby; Ilka Wittig; Ajay M. Shah; Simone Di Giovanni
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
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
Academic Journal
David Pellerin; Giulia F. Del Gobbo; Madeline Couse; Egor Dolzhenko; Sathiji K. Nageshwaran; Warren A. Cheung; Isaac R. L. Xu; Marie-Josée Dicaire; Guinevere Spurdens; Gabriel Matos-Rodrigues; Igor Stevanovski; Carolin K. Scriba; Adriana Rebelo; Virginie Roth; Marion Wandzel; Céline Bonnet; Catherine Ashton; Aman Agarwal; Cyril Peter; Dan Hasson; Nadejda M. Tsankova; Ken Dewar; Phillipa J. Lamont; Nigel G. Laing; Mathilde Renaud; Henry Houlden; Matthis Synofzik; Karen Usdin; Andre Nussenzweig; Marek Napierala; Zhao Chen; Hong Jiang; Ira W. Deveson; Gianina Ravenscroft; Schahram Akbarian; Michael A. Eberle; Kym M. Boycott; Tomi Pastinen; Emily Bateman; Chelsea Berngruber; Fabio Cunial; Colleen P. Davis; Huyen Dinh; Harsha Doddapaneni; Kim Doheny; Shannon Dugan-Perez; Tara Dutka; Evan E. Eichler; Philip Empey; Sarah Fazal; Chris Frazar; Kiran Garimella; Jessica Gearhart; Richard Gibbs; Jane Grimwood; Namrata Gupta; Salina K. Hall; Yi Han; William T. Harvey; Jess Hosea; PingHsun Hsieh; Jianhong Hu; Yongqing Huang; James Hwang; Michal Izydorczyk; Hyeonsoo Jeong; Ziad Khan; Sarah Kirkpatrick; Michelle Kokosinski; Sam Kovaka; Edibe Nehir Kurtas; Rebecca Lakatos; Emily LaPlante; Samuel K. Lee; Niall Lennon; Shawn Levy; Qiuhui Li; Lee Lichtenstein; Glennis A. Logsdon; Chris Lord; Ryan Lorig-Roach; Medhat Madmoud; Anant Maheshwari; Beth Marosy; Heer Mehta; Ginger Metcalf; David Mohr; Carolina Montano; Luke Morina; Yulia Mostovoy; Anjene Musick; Donna Muzny; Shane Neph; Justin Paschall; Karynne Patterson; Arianna Pionzio; David Porubsky; Nripesh Prasad; Allison N. Rozanski; Alba Sanchis-Juan; Michael C. Schatz; Sophie Schwartz; Alan Scott; Adriana Sedeno-Cortes; Fritz Sedlazeck; Tristan Shaffer; Hua Shen; Beri Shifaw; Joshua D. Smith; Natthapon Soisangwan; Andrew Stergachis; Hang Su; Michael Talkowski; Winston Timp; Vanesa Vee; Evie Wan; Yuanyuan Wang; George Weissenberger; Julie Wertz; Marsha Wheeler; Christopher Whelan; DongAhn Yoo; Shadi Zaheri; Xinchang Zheng; Yiming Zhu; Michelle Zilka; Bernard Brais; Stephan Zuchner; Matt C. Danzi
Nature genetics 56(7), 1366-1370 (2024). doi:10.1038/s41588-024-01808-5
Academic Journal
Shihan Chen; Catherine Ashton; Rawan Sakalla; Guillemette Clement; Sophie Planel; Céline Bonnet; Phillipa J. Lamont; Karthik Kulanthaivelu; Atchayaram Nalini; Henry Houlden; Antoine Duquette; Marie-Josée Dicaire; Pablo Iruzubieta Agudo; Javier Ruiz-Martinez; Enrique Marco De Lucas; Rodrigo Sutil Berjon; Jon Infante Ceberio; Elisabetta Indelicato; Sylvia M. Boesch; Matthis Synofzik; Benjamin Bender; Matt C. Danzi; Stephan Zuchner; David Pellerin; Bernard Brais; Mathilde Renaud; Roberta La Piana
Neurol Genet
Neurology / Genetics 11(2), e200253 (2025). doi:10.1212/NXG.0000000000200253
Neurology / Genetics 11(2), e200253 (2025). doi:10.1212/NXG.0000000000200253
Academic Journal
Luca Schierbaum; Vicente Quiroz; Kathryn Yang; Joshua Rong; Nicole Battaglia; Umar Zubair; Michelle Christie; Marie Davis; Daniel Calame; Matt C. Danzi; Richard S. Finkel; Joshua Burns; Donald L. Gilbert; Dararat Mingbunjerdsuk; Greg Pruitt; Norma Pruitt; John Cobb; Reza Sadjadi; Christopher R. Cashman; Craig Blackstone; John K. Fink; Michael E. Shy; Stephan Zuchner; Darius Ebrahimi-Fakhari
Neurol Genet
Academic Journal
David Genís; Berta Alemany; David Pellerin; Bernard Brais; Marie-Josée Dicaire; Víctor Volpini; Berta Campos; Jordi Corral; Josep Gardenyes; Laura de Jorge; Héctor San Nicolás; Maria Buxó; Joan Martínez Sancho; Maria Obon; Carles Roig; Laia Rodriguez-Revenga; María Isabel Alvarez-Mora; Matt C. Danzi; Henry Houlden; Stephan Zuchner; Fabián Márquez; Lluís Ramió i Torrentà
Journal of Neurology. 272
Academic Journal
Isaac R. L. Xu; Matt C. Danzi; Ariel Ruiz; Jacquelyn Raposo; Yeisha Arcia De Jesus; Mary M. Reilly; Andrea Cortese; Michael E. Shy; Steven S. Scherer; David N. Herrmann; Vera Fridman; Jonathan Baets; Mario Saporta; Reza Seyedsadjadi; Tanya Stojkovic; Kristl G. Claeys; Pooja Patel; Shawna Feely; Adriana P. Rebelo; Maike F. Dohrn; Stephan Züchner
Journal of the peripheral nervous system
Academic Journal
Egor Dolzhenko; Adam English; Harriet Dashnow; Guilherme De Sena Brandine; Tom Mokveld; William J. Rowell; Caitlin Karniski; Zev Kronenberg; Matt C. Danzi; Warren A. Cheung; Chengpeng Bi; Emily Farrow; Aaron Wenger; Khi Pin Chua; Verónica Martínez-Cerdeño; Trevor D. Bartley; Peng Jin; David L. Nelson; Stephan Zuchner; Tomi Pastinen; Aaron R. Quinlan; Fritz J. Sedlazeck; Michael A. Eberle
Nature Biotechnology. 42:1606-1614
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[AR] Matt C. Danzi
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