학술논문
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'학술논문'
에서 검색결과 509건 | 목록
1~20
Academic Journal
Schoenmakers, Daphne H; Asbreuk, Marije A B C; Martin, Tamara; Datema, Mareen; Beerepoot, Shanice; Inbar-Feigenberg, Michal; Groeschel, Samuel; Kehrer, Christiane; Øberg, Andreas; Sevin, Caroline; Fumagalli, Francesca; Bergner, Caroline G; Vieira, Päivi; Bley, Annette; Uusimaa, Johanna; Horn, Morten Andreas; Brožová, Klára; Stögmann, Eva; Pichler, Herbert; Lüftinger, Roswitha; Eklund, Erik A; Mochel, Fanny; Adang, Laura A; Laugwitz, Lucia; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; García-Cazorla, Ángeles; Grønborg, Sabine W; Lindemans, Caroline A; van Hasselt, Peter M; Hollak, Carla E M; de Koning, Tom J; Ram, Dipak; Dekker, Hanka; Schöls, Ludger; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I
European Journal of Paediatric Neurology. 57:72-81
Academic Journal
Laugwitz, Lucia; Schoenmakers, Daphne H.; Adang, Laura A.; Beck-Woedl, Stefanie; Bergner, Caroline; Bernard, Geneviève; Bley, Annette; Boyer, Audrey; Calbi, Valeria; Dekker, Hanka; Eichler, Florian; Eklund, Erik; Fumagalli, Francesca; Gavazzi, Francesco; Grønborg, Sabine W.; van Hasselt, Peter; Langeveld, Mirjam; Lindemans, Caroline; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Saunier-Vivar, Elise; Schöls, Ludger; Scholz, Michael; Sevin, Caroline; Zerem, Ayelet; Wolf, Nicole I.; Groeschel, Samuel
European Journal of Paediatric Neurology. 49:141-154
Academic Journal
Francesco Gavazzi; Emily Yu; Zarrin Tashnim; Sarah Woidill; Anjana Sevagamoorthy; Kaley Arnold; Louisa Ammann-Schnell; Samuel Groeschel; Ingeborg Krägeloh-Mann; Vivian Breitling; Lars Schlotawa; Rebecca Ahrens-Nicklas; Laura A. Adang
Journal of Child Neurology. 40:852-861
Academic Journal
Gavazzi, Francesco ; Patel, Virali ; Erler, Jacqueline A. ; Charsar, Brittany ; Vaia, Ylenia ; Sevagamoorthy, Anjana ; Vincent, Ariel ; Woidill, Sarah ; Wassmer, Evangeline ; Houlden, Henry ; Garcia-Cazorla, Angeles ; Tonduti, Davide ; Wolf, Nicole I. ; Van der Knaap, Marjo ; Bernard, Geneviève ; Adang, Laura A. ; Vanderver, Adeline
In Pediatric Neurology December 2025 173:156-165
Academic Journal
Pillai, Nishitha R.; Liu, Ning; Li, Xiyuan; Li, Xiqi; Ahrens-Nicklas, Rebecca; Adang, Laura; Eisengart, Julie B.; Bronken, Grace; Gupta, Ashish; Lund, Troy C.; Whitley, Chester B.; Elsea, Sarah H.; Orchard, Paul J.
Communications Medicine. 5(1)
Editorial & Opinion
Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A.B.C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; García Cazorla, Ángeles; Grønborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E.M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Sevin, Caroline; Schöls, Ludger; Zerem, Ayelet; Wolf, Nicole I.; Fumagalli, Francesca
Protein and Cell. 16(1):12-15
Academic Journal
Varesio, Costanza, MD, PhD; Politano, Davide, MD; Adang, Laura, MD, PhD; Ballante, Elena, MD, PhD; Battini, Roberta, MD, PhD; Bertini, Enrico, MD; Borgatti, Renato, MD; De Giorgis, Valentina, MD, PhD; Del Boca, Annamaria, MD; Dragoni, Francesca, PhD; Fazzi, Elisa, MD, PhD; Galli, Jessica, MD, PhD; Garau, Jessica, PhD; Gavazzi, Francesco, MD, PhD; Gardani, Alice, MSc; La Piana, Roberta, MD, PhD; Moroni, Isabella, MD; Nicita, Francesco, MD, PhD; Pichiecchio, Anna, MD; Pini, Antonella, MD, PhD; Ricci, Federica, MD, PhD; Sartori, Stefano, MD, PhD; Tonduti, Davide, MD, PhD; Vanderver, Adeline, MD; Orcesi, Simona, MD
Pediatric Neurology. 171:92-99
Academic Journal
Schoenmakers, Daphne H.; Mochel, Fanny; Adang, Laura A.; Boelens, Jaap Jan; Calbi, Valeria; Eklund, Erik A.; Grønborg, Sabine W.; Fumagalli, Francesca; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Schöls, Ludger; Ram, Dipak; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I.
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Emma R. Kotes; Sarah Woidill; Russell D'Aiello; Amina Khan; Jacob McCann; Mark Ramos; Francesco Gavazzi; Stephanie Keller; Keith Van Haren; Ali Fatemi; Florian Eichler; Joshua Bonkowsky; Jamie Fraser; Lisa Emrick; Omar Sherbini; Ashley Hackett; Jeilo Gauna; Dandre Amos; Jordan Goodman; Amena Smith Fine; Amanda Nagy; Seungil Lee; Nicole Page; Johanna Schmidt; Amy Pizzino; Kayla Muirhead; Mariko Bennett; Amy Waldman; Justine Shults; Laura Adang; Robert Grundmeier; Adeline Vanderver
Annals of the Child Neurology Society, Vol 3, Iss 3, Pp 176-187 (2025)
Review
Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I
Neurology. 105(2)
Academic Journal
Pham, Vi; Tricoli, Lucas; Hong, Xinying; Wongkittichote, Parith; Castruccio Castracani, Carlo; Guerra, Amaliris; Schlotawa, Lars; Adang, Laura A; Kuhs, Amanda; Cassidy, Margaret M; Kane, Owen; Tsai, Emily; Presa, Maximiliano; Lutz, Cathleen; Rivella, Stefano B; Ahrens-Nicklas, Rebecca C
Molecular Therapy. 32:3829-3846
Academic Journal
Sevagamoorthy, Anjana ; Gavazzi, Francesco ; Tashnim, Zarrin ; Hong, Peter ; Vaia, Ylenia ; Lee-Kirsch, Min Ae ; Eleftheriou, Despina ; Beerepoot, Shanice ; Hully, Marie ; Berry Kravis, Elizabeth M. ; Ventola, Pamela ; Raspa, Melissa ; Wheeler, Anne ; DeMauro, Sara B. ; Glanzman, Allan M. ; Townsend, Elise ; Duong, Tina ; Cusack, Stacy ; Harrington, Ann T. ; Pierce, Samuel ; Fitzgerald, Michelle ; Fazzi, Elisa ; Galli, Jessica ; Orcesi, Simona ; Tonduti, Davide ; Wassmer, Evangeline ; Cordova, Devon ; Adang, Laura A. ; Butts, Cherie ; Vanderver, Adeline
In Molecular Genetics and Metabolism March 2026 147(3)
Academic Journal
Gavazzi, Francesco ; Pierce, Samuel R. ; Smith, Vanessa ; Yang, Eric ; Skorup, Julie ; Pucci, Kristy ; Kotes, Emma ; Glanzman, Allan M. ; Cusack, Stacy V. ; Levy, Todd ; Dubbs, Holly ; Wiener, Emma ; Woidill, Sarah ; Vithayathil, Joseph ; Jawad, Abbas ; Thakur, Nivedita ; Adang, Laura A.
In Molecular Genetics and Metabolism November 2025 146(3)
Academic Journal
Tricoli, Lucas ; Sase, Sunetra ; Hacker, Julia L. ; Pham, Vi ; Chappell, Maxwell ; Breda, Laura ; Hurwitz, Stephanie N. ; Tanaka, Naoto ; Castruccio Castracani, Carlo ; Guerra, Amaliris ; Hou, Zhongqi ; Schlotawa, Lars ; Radhakrishnan, Karthikeyan ; Hogenauer, Matthew ; Roche, Aoife ; Everett, John ; Bushman, Frederic ; Kurre, Peter ; Ahrens-Nicklas, Rebecca ; Adang, Laura A. ; Vanderver, Adeline L. ; Rivella, Stefano
In Molecular Therapy - Nucleic Acids 11 March 2025 36(1)
Academic Journal
Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schöls, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline
Cytotherapy. 26(7):739-748
Academic Journal
Gavazzi, Francesco ; Charsar, Brittany ; Hamilton, Eline ; Erler, Jacqueline A. ; Patel, Virali ; Woidill, Sarah ; Sevagamoorthy, Anjana ; Helman, Guy ; Schmidt, Johanna ; Pizzino, Amy ; Muirhead, Kayla ; Takanohashi, Asako ; Bonkowsky, Joshua L. ; Meyerhoffer, Kelsee ; Simons, Cas ; Doi, Hiroshi ; Satoko, Miyatake ; Matsumoto, Naomichi ; Delgado, Mauricio R. ; Sanchez-Castillo, Meredith ; Wang, Jingming ; de Carvalho, Daniel Rocha ; Tournev, Ivailo ; Chamova, Teodora ; Jordanova, Albena ; Clegg, Nancy J. ; Nicita, Francesco ; Bertini, Enrico ; Teng, Michelle ; Williams, Dan ; Tonduti, Davide ; Houlden, Henry ; Stellingwerff, Menno ; Wassmer, Evangeline ; Garcia-Cazorla, Angeles ; Bernard, Geneviève ; Mirchi, Amytice ; Toutounchi, Helia ; Wolf, Nicole I. ; van der Knaap, Marjo S. ; Shults, Justine ; Adang, Laura A. ; Vanderver, Adeline L.
In Molecular Genetics and Metabolism March 2025 144(3)
Academic Journal
Mutua, Sylvia ; Sevagamoorthy, Anjana ; Woidill, Sarah ; Orchard, Paul J. ; Gavazzi, Francesco ; MacFarland, Suzanne P. ; Russo, Pierre ; Vanderver, Adeline ; Adang, Laura A.
In Molecular Genetics and Metabolism January 2025 144(1)
Academic Journal
Francesco Gavazzi; Ylenia Vaia; Sarah Woidill; Brielle Formanowski; Isabella Peixoto de Barcelos; Anjana Sevagamoorthy; Nicholson B. Modesti; Lauren Charlton; Stacy V. Cusack; Ariel Vincent; Russell D'Aiello; Abbas Jawad; Jessica Galli; Costanza Varesio; Elisa Fazzi; Simona Orcesi; Allan M. Glanzman; Scott Lorch; Sara B. DeMauro; Danielle Guez-Barber; Amy T. Waldman; Adeline Vanderver; Laura A. Adang
Neurology. 103
Academic Journal
Goldberg, Gabriela; Coelho, Luisa; Mo, Guoya; Adang, Laura A.; Patne, Meenakshi; Chen, Zhoutao; Garcia-Bassets, Ivan; Mesci, Pinar; Muotri, Alysson R.
Molecular Psychiatry. 29(3):566-579
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