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Kaiyrzhanov, Rauan; Ortigoza-Escobar, Juan Dario; Stringer, Brett W.; Ganieva, Manizha; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Macaya, Alfons; Laner, Andreas; Onbool, Enas; Al-Shammari, Randa; Al-Owain, Mohammed; Deconinck, Nicolas; Vilain, Catheline; Dontaine, Pauline; Self, Eleanor; Akram, Rabia; Hussain, Ghulam; Baig, Shahid Mahmood; Iqbal, Javed; Salpietro, Vincenzo; Neshatdoust, Maedeh; Kasiri, Mahboubeh; Yesil, Gozde; Uygur, Turkan; Pysden, Karen; Berry, Ian R.; Alves, Cesar Augusto; Giacomotto, Jean; Houlden, Henry; Maroofian, Reza Share Save Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarizationVila-Pueyo, Marta; Cuenca-Leon, Ester; Queiros, Ana C. C.; Kulis, Marta; Sintas, Celia; Cormand, Bru; Martin-Subero, Jose Ignacio; Pozo-Rosich, Patricia; Fernandez-Castillo, Noelia; Macaya, Alfons Share Save Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescenceVerdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agusti; Macaya, Alfons; Dominique Becker, Hubert; Pujol, Aurora Share Save The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersPerez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Paivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C.; Pons, Roser; Peall, Kathryn J.; Leuzzi, Vincenzo; Kurian, Manju A. Share Save Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora Share Save Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyVerdura, Edgard; Rodriguez-Palmero, Agusti; Velez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacon, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schluter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marce-Grau, Anna; de Souza, Precilla; Adams, David R.; Casasnovas, Carlos; Rehm, Heidi L.; Mefford, Heather C.; Gonzalez Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora Share Save Share Save Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; D'Augeres, Guillaume B.; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J. Chris Share Save A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (vol 15, 206, 2020)Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele Share Save Rare and de novo coding variants in chromodomain genes in Chiari I malformation (vol 108, pg 100, 2021)Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T.; Gannon, Stephen R.; McCall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B.; Turner, Tychele N.; Shannon, Chevis N.; Brockmeyer, Douglas; Limbrick, David D.; Gurnett, Christina A.; Haller, Gabe Share Save Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhageFernandez de Gamarra-Oca, Lexuri; Zubiaurre-Elorza, Leire; Junque, Carme; Solana, Elisabeth; Soria-Pastor, Sara; Vazquez, Elida; Delgado, Ignacio; Macaya, Alfons; Ojeda, Natalia; Poca, Maria A. Share Save Rare and de novo coding variants in chromodomain genes in Chiari I malformationSadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T.; Gannon, Stephen R.; McCall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Burnetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B.; Turner, Tychele N.; Shannon, Chevis N.; Brockmeyer, Douglas; Limbrick, David D.; Gurnett, Christina A.; Haller, Gabe Share Save Delineating the motor phenotype of SGCE-myoclonus dystonia syndromeVanegas, Maria, I; Marce-Grau, Anna; Marti-Sanchez, Laura; Mellid, Sara; Baide-Mairena, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodriguez, Carla; Toledo, Laura; Fernandez-Ramos, Joaquin Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Marti, Maria Jose; Eiris, Jesus; Iglesias, Gema; De Fabregues, Oriol; Maqueda, Elena; Garriz-Luis, Maite; Madruga, Marcos; Espinos, Carmen; Macaya, Alfons; Cabrera, Jose Carlos; Perez-Duenas, Belen Share Save Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research projectde Vries, Petrus J.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; Beure d'Augeres, Guillaume; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, J. Chris; Jansen, Anna C. Share Save A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a TreatabolomeAtalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele Share Save Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defectCorrea-Vela, Marta; Lupo, Vincenzo; Montpeyo, Marta; Sancho, Paula; Marce-Grau, Anna; Hernandez-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernandez-Rodriguez, Sandra; Tello, Cristina; Ramirez-Jimenez, Laura; Perez, Belen; Sanchez-Montanez, Angel; Macaya, Alfons; Sobrido, Maria J.; Martinez-Vicente, Marta; Perez-Duenas, Belen; Espinos, Carmen Share Save Share Save Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variabilityBarcia, Giulia; Chemaly, Nicole; Kuchenbuch, Mathieu; Eisermann, Monika; Gobin-Limballe, Stephanie; Ciorna, Viorica; Macaya, Alfons; Lambert, Laetitia; Dubois, Fanny; Doummar, Diane; Billette, Thierry; Villeneuve, Nathalie; Barthez, Marie-Anne; Nava, Caroline; Boddaert, Nathalie; Kaminska, Anna; Bahi-Buisson, Nadia; Milh, Mathieu; Auvin, Stephane; Bonnefont, Jean-Paul; Nabbout, Rima Share Save 
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