Publications
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Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.
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Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function
ANNALS OF NEUROLOGY . 94(5): 987-1004. Number of citations: 20
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Patel SH, Panagiotakaki E, Papadopoulou MT, Fons-Estupina C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R and Mikati MA.
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease
JOURNAL OF CHILD NEUROLOGY . 38(10-12): 597-610. Number of citations: 3
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Schluter, Agatha, Velez-Santamaria, Valentina, Verdura, Edgard, Rodriguez-Palmero, Agusti, Ruiz, Montserrat, Fourcade, Stephane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martinez, Juan Jose, Homedes-Pedret, Christian, Alberti-Aguilo, M. Antonia, Zulaika, Miren, Marti, Itxaso, Troncoso, Monica, Tomas-Vila, Miguel, Bullich, Gemma, Garcia-Perez, M. Asuncion, Sobrido-Gomez, Maria-Jesus, Lopez-Laso, Eduardo, Fons-Estupina C, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutierrez-Solana, Luis G., Perez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo Lopez, Casasnovas, Carlos, Pujol, Aurora and HSP Ataxia Workgrp.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
GENOME MEDICINE . 15(1): . Number of citations: 2
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Hedley V, Bolz-Johnson M, Hernando I, Kenward R, Nabbout R, Romero C, Schaefer F and Upadhyaya S.
Together4RD position statement on collaboration between European reference networks and industry
ORPHANET JOURNAL OF RARE DISEASES . 18(1): 272-272. Number of citations: 4
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Sentmanat MK, Papadopoulou MT, Prange L, Fons-Estupina C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Anticona-Huaynate J, Stagnaro M, Megvinov A, Patel S, Arzimanoglou A, Vavassori R, Panagiotakaki E and Mikati MA.
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 46: 98-107. Number of citations: 2
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Nabbout R, Arzimanoglou A, Auvin S, Berquin P, Desurkar A, Fuller D, Nortvedt C, Pulitano P, Rosati A, Soto V, Villanueva V and Cross JH.
Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 110: 78-85. Number of citations: 10
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Paliotti, K, Dassi, C, Berrahmoune, S, Bejaran, ML, Carlos Valera Dávila, Borras-Martinez A, Fons-Estupina C, Mancardi, MM, Riva, A, Giacomini, T, Severino, M, Romaniello, R, Dubeau, F, Srour, M and Myers, KA.
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
JOURNAL OF NEUROLOGY . 270(8): 3934-3945. Number of citations: 6
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Murillo C, Ferrero-Martinez SI, Cobo-Cobo T, Izquierdo-Renau M, Aldecoa V, Grau L, Ponce J, Rueda C and Palacio-Navarro A.
Outpatient management of preterm prelabor rupture of membranes before 34 weeks: Maternal and neonatal outcomes
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS . 162(2): 703-710. Number of citations: 2
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Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew HE, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Mohnish S, Ebrahimi-Fakhari D, Houlden H and Maroofian R.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
BRAIN . 146(8): 3273-3288. Number of citations: 6