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Items: 1 to 20 of 40

1.
Inga Harting, Sven F. Garbade, Stefan D. Rosendaal, Alexander Mohr, Omar Sherbini, Adeline Vanderver, Nicole I. Wolf
Eur J Paediatr Neurol.
Published in final edited form as: Eur J Paediatr Neurol. 2022 Nov; 41: 71–79. Published online 2022 Nov 4. doi: 10.1016/j.ejpn.2022.10.003
PMCID:
PMC11348679
2.
Dimitra Siori, Dimitrios Vlachakis, Periklis Makrythanasis, Joanne Traeger-Synodinos, Danai Veltra, Afrodite Kampouraki, George P. Chrousos
Genes (Basel) 2024 May; 15(5): 525. Published online 2024 Apr 23. doi: 10.3390/genes15050525
PMCID:
PMC11120763
3.
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox
Nat Commun. 2024; 15: 4284. Published online 2024 May 20. doi: 10.1038/s41467-024-48549-x
PMCID:
PMC11106242
4.
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino
Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427
PMCID:
PMC11068110
5.
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita
Genes (Basel) 2024 Apr; 15(4): 508. Published online 2024 Apr 18. doi: 10.3390/genes15040508
PMCID:
PMC11050085
6.
Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274
PMCID:
PMC10958179
7.
Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera
J Lipid Res. 2024 Mar; 65(3): 100517. Published online 2024 Feb 10. doi: 10.1016/j.jlr.2024.100517
PMCID:
PMC10940770
8.
Jose R. Eguibar, Carmen Cortes, Victor H. Hernandez, Alejandra Lopez-Juarez, Valeria Piazza, Diego Carmona, Anke Kleinert-Altamirano, Blanca Morales-Campos, Emilio Salceda, Manuel Roncagliolo
PLoS One. 2024; 19(3): e0298208. Published online 2024 Mar 1. doi: 10.1371/journal.pone.0298208
PMCID:
PMC10906851
9.
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223
PMCID:
PMC10579516
10.
Lin Wan, Dan Yu, Zhichao Li, Xinting Liu, Yan Liang, Huimin Yan, Gang Zhu, Bo Zhang, Guang Yang
Epilepsia Open. 2023 Sep; 8(3): 867–876. Published online 2023 May 5. doi: 10.1002/epi4.12751
PMCID:
PMC10472388
11.
Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen
Brain. 2023 Aug; 146(8): 3513–3527. Published online 2023 Mar 14. doi: 10.1093/brain/awad086
PMCID:
PMC10393412
12.
Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi
Iran J Med Sci. 2021 Nov; 46(6): 493–497. doi: 10.30476/IJMS.2021.87126.1736
PMCID:
PMC8611227
13.
Tuancheng Feng, Alexander Lacrampe, Fenghua Hu
Acta Neuropathol.
Published in final edited form as: Acta Neuropathol. 2021 Mar; 141(3): 327–339. Published online 2021 Jan 1. doi: 10.1007/s00401-020-02246-3
PMCID:
PMC8049516
14.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700
PMCID:
PMC7823228
15.
Fredrik I Gruenenfelder, Mark McLaughlin, Ian R Griffiths, James Garbern, Gemma Thomson, Peter Kuzman, Jennifer A Barrie, Maj-lis McCulloch, Jacques Penderis, Ruth Stassart, Klaus-Armin Nave, Julia M Edgar
Brain. 2020 May; 143(5): 1383–1399. Published online 2020 May 18. doi: 10.1093/brain/awaa080
PMCID:
PMC7462093
16.
Cagla Cömert, Lauren Brick, Debbie Ang, Johan Palmfeldt, Brandon F. Meaney, Mariya Kozenko, Costa Georgopoulos, Paula Fernandez-Guerra, Peter Bross
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a004879. doi: 10.1101/mcs.a004879
PMCID:
PMC7304351
17.
Yu Takeuchi, Marina Tanaka, Nanako Okura, Yasuyuki Fukui, Ko Noguchi, Yoshihiro Hayashi, Tomohiro Torii, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi
Medicines (Basel) 2020 May; 7(5): 25. Published online 2020 May 6. doi: 10.3390/medicines7050025
PMCID:
PMC7281511
18.
Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao-Tuan Chao
Am J Hum Genet. 2020 Apr 2; 106(4): 570–583. Published online 2020 Mar 19. doi: 10.1016/j.ajhg.2020.02.016
PMCID:
PMC7118694
19.
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, Nicole I. Wolf
Neurogenetics. 2020; 21(2): 121–133. Published online 2020 Jan 15. doi: 10.1007/s10048-019-00602-4
PMCID:
PMC7064625
20.
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah von Spiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van der Knaap, Nicole I. Wolf
Ann Clin Transl Neurol. 2020 Jan; 7(1): 83–93. Published online 2019 Dec 8. doi: 10.1002/acn3.50960
PMCID:
PMC6952319

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