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Items: 1 to 20 of 29

1.
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta de Castro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Mol Genet Genomic Med. 2024 Jun; 12(6): e2475. Published online 2024 Jun 27. doi: 10.1002/mgg3.2475
PMCID:
PMC11211614
2.
Laura A. van de Pol, Nina Burgert, Petra E. M. van Schie, K. Mariam Slot, Alida A. Gouw, Annemieke I. Buizer
Childs Nerv Syst. 2024; 40(3): 855–861. Published online 2023 Oct 3. doi: 10.1007/s00381-023-06159-w
PMCID:
PMC10891194
3.
Juan Antonio García-Carmona, Joaquín Amores-Iniesta, José Soler-Usero, María Cerdán-Sánchez, Javier Navarro-Zaragoza, María López-López, Juan José Soria-Torrecillas, Ainhoa Ballesteros-Arenas, José Antonio Pérez-Vicente, Pilar Almela
Genes (Basel) 2023 Jul; 14(7): 1320. Published online 2023 Jun 23. doi: 10.3390/genes14071320
PMCID:
PMC10379220
4.
Seyed-Mohammad Fereshtehnejad, Philip A. Saleh, Lais M. Oliveira, Neha Patel, Suvorit Bhowmick, Gerard Saranza, Lorraine V. Kalia
Neurol Sci. 2023; 44(3): 947–959. Published online 2022 Nov 28. doi: 10.1007/s10072-022-06516-8
PMCID:
PMC9925593
5.
Barış Genç, Javier H. Jara, Santana S. Sanchez, Amiko K. B. Lagrimas, Oge Gozutok, Nuran Kocak, Yongling Zhu, P. Hande Özdinler
Gene Ther.
Published in final edited form as: Gene Ther. 2022 Apr; 29(3-4): 178–192. Published online 2021 Dec 2. doi: 10.1038/s41434-021-00303-4
PMCID:
PMC9018479
6.
Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schüle, Craig Blackstone, Giovanni Esposito, Connor Buffel, Inês Oliveira, Christian Freitag, Stephane van Rooijen, Stéphanie Hoffmann, Leen Thielemans, Belinda S. Cowling
BMC Neurol. 2022; 22: 115. Published online 2022 Mar 24. doi: 10.1186/s12883-022-02595-4
PMCID:
PMC8944001
7.
Ping Wang, Hong Liao, Quyou Wang, Hanbing Xie, He Wang, Mei Yang, Shanling Liu
Reprod Sci. 2022 Mar; 29(3): 768–780. Published online 2021 Dec 16. doi: 10.1007/s43032-021-00828-4
PMCID:
PMC8863719
8.
Pavel A. Melentev, Elena V. Ryabova, Nina V. Surina, Darya R. Zhmujdina, Artem E. Komissarov, Ekaterina A. Ivanova, Natalia P. Boltneva, Galina F. Makhaeva, Mariana I. Sliusarenko, Andriy S. Yatsenko, Iryna I. Mohylyak, Nataliya P. Matiytsiv, Halyna R. Shcherbata, Svetlana V. Sarantseva
Int J Mol Sci. 2021 Aug; 22(15): 8275. Published online 2021 Jul 31. doi: 10.3390/ijms22158275
PMCID:
PMC8347196
9.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Genomics England Research Consortium, PREPARE network, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Jr, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
Brain. 2021 May; 144(5): 1422–1434. Published online 2021 May 10. doi: 10.1093/brain/awab041
PMCID:
PMC8219359
10.
M.-K. Pan, S.-C. Huang, Y.-C. Lo, Chih-Chao Yang, T.-W. Cheng, Chi-Cheng Yang, M.-S. Hua, M.-J. Lee, W.-Y.I. Tseng
AJNR Am J Neuroradiol. 2013 May; 34(5): 990–996. doi: 10.3174/ajnr.A3330
PMCID:
PMC7964653
11.
Beenish Arif, Arisha Rasheed, Kishore R Kumar, Amara Fatima, Ghazanfar Abbas, Elizabeth Wohler, Nara Sobriera, Katja Lohmann, Sadaf Naz, Baylor-Hopkins Center for Mendelian Genomics
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2020 Nov; 63(11): 104031. Published online 2020 Aug 18. doi: 10.1016/j.ejmg.2020.104031
PMCID:
PMC7554104
12.
Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai, Stefano Gambardella
BMC Neurol. 2020; 20: 258. Published online 2020 Jun 29. doi: 10.1186/s12883-020-01835-9
PMCID:
PMC7322863
13.
Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna
Am J Case Rep. 2020; 21: e919463-1–e919463-5. Published online 2020 May 11. doi: 10.12659/AJCR.919463
PMCID:
PMC7249741
14.
Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers
Ann Clin Transl Neurol. 2019 Aug; 6(8): 1572–1577. Published online 2019 Jul 27. doi: 10.1002/acn3.50860
PMCID:
PMC6689693
15.
Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Durr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Koenig, Ludger Schöls, Rebecca Schüle, Peter de Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer
Brain. 2016 May; 139(5): 1378–1393. Published online 2016 Apr 17. doi: 10.1093/brain/aww079
PMCID:
PMC6363274
16.
Chiara Vantaggiato, Elena Panzeri, Marianna Castelli, Andrea Citterio, Alessia Arnoldi, Filippo Maria Santorelli, Rocco Liguori, Marina Scarlato, Olimpia Musumeci, Antonio Toscano, Emilio Clementi, Maria Teresa Bassi
Autophagy. 2019; 15(1): 34–57. Published online 2018 Sep 13. doi: 10.1080/15548627.2018.1507438
PMCID:
PMC6287682
17.
Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz
Cerebellum.
Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y
PMCID:
PMC5970027
18.
Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
Brain. 2017 Dec; 140(12): 3112–3127. Published online 2017 Nov 6. doi: 10.1093/brain/awx273
PMCID:
PMC5841036
19.
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Eur J Hum Genet. 2017 Aug; 25(8): 966–972. Published online 2017 May 10. doi: 10.1038/ejhg.2017.85
PMCID:
PMC5567152
20.
Philip D. Campbell, Kimberle Shen, Matthew R. Sapio, Thomas D. Glenn, William S. Talbot, Florence L. Marlow
J Neurosci. 2014 Oct 29; 34(44): 14717–14732. doi: 10.1523/JNEUROSCI.2770-14.2014
PMCID:
PMC4212069

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