Publicaciones
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Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger GJ, Jung J, Lemesle Martin M, Mancardi MM, Mueller M, Poulat AL, Platzer K, Roubertie A, Stokman MF, Vulto-van Silfhout AT, Wiegand G and Mazzola L.
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
ANNALS OF NEUROLOGY . 97(1): 34-50.
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Ghasemi, MR, Fateh, ST, Ben-Mahmoud, A, Gupta, V, Stühn, LG, Lesca, G, Chatron, N, Platzer, K, Edery, P, Sadeghi, H, Isidor, B, Cogné, B, Schulz, HL, Krauspe-Stübecke, I, Periyasamy, R, Nampoothiri, S, Mirfakhraie, R, Alijanpour, S, Syrbe, S, Pfeifer, U, Spranger, S, Grundmann-Hauser, K, Haack, TB, Papadopoulou, MT, Gonçalves, TD, Panagiotakaki, E, Arzimanoglou A, Tonekaboni, SH, Rossi, M, Korenke, GC, Lacassie, Y, Jang, MH, Layman, LC, Miryounesi, M and Kim, HG.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .
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Borrell-Pichot M, Fons-Estupina C, Boronat S and Sierra-Marcos A.
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
Epilepsia Open . : .
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Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . 22(06): 466-469.
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Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R and Curatolo P.
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives
LANCET CHILD & ADOLESCENT HEALTH . 8(11): 821-834. Nº de citas: 7
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Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de citas: 2
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González-Crespo A, Brugada-Bellsolà F, Candela-Cantó SA, Aparicio J, Arboix JR and Hinojosa J.
Robot-assisted insular stereoelectroencephalography in pediatric drug-resistant epilepsy: accuracy and diagnostic value
CHILDS NERVOUS SYSTEM . 40(11): 3729-3744.
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Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up
PLoS One . 19(10): .
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Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.
Extra-temporal pediatric low-grade gliomas and epilepsy
CHILDS NERVOUS SYSTEM . 40(10): 3309-3327. Nº de citas: 1
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451.