Publicacions
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Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H and Maroofian R.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
MOVEMENT DISORDERS . : .
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Awamleh, Z, Choufani, S, Wu, W, Rots, D, Dingemans, AJM, Khadri, NN, Boronat, S, Ibañez-Mico, S, Herraiz, LC, Ferrer, I, Carrascal, AM, Pérez-Jurado, LA, Lain, GA, Ortigoza-Escobar JD, de Vries, BBA, Koolen, DA and Weksberg, R.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(3): 324-332. Nº de cites: 2
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Saez-Matia A, Ibarluzea MG, M-Alicante S, Muguruza-Montero A, Nuñez E, Ramis R, Ballesteros OR, Lasa-Goicuria D, Fons-Estupina C, Gallego M, Casis O, Leonardo A, Bergara A and Villarroel A.
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): .
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Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I and Mariotti C.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
NEUROLOGICAL SCIENCES . 45(3): 1007-1016.
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Sanders MW, Van der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, Grote A, Becker AJ, Rheims S, Catenoix H, Duncan JS, De Tisi J, Jacques TS, Cross JH, Kalviainen R, Rauramaa T, Chassoux F, Devaux BC, Di Gennaro G, Esposito V, Bodi I, Honavar M, Bien CG, Cloppenborg T, Coras R, Hamer HM, Marusic P, Kalina A, Pieper T, Kudernatsch M, Hartlieb TS, Von Oertzen TJ, Aichholzer M, Dorfmuller G, Chipaux M, Noachtar S, Kaufmann E, Schulze-Bonhage A, Scheiwe CF, Özkara C, Grunwald T, Koenig K, Guerrini R, Barba C, Buccoliero AM, Giordano F, Rosenow F, Menzler K, Garbelli R, Deleo F, Krsek P, Straka B, Arzimanoglou A, Toulouse J, Van Paesschen W, Theys T, Pimentel J, Loução De Amorim IM, Specchio N, De Palma L, Feucht M, Scholl T, Roessler K, Toledano Delgado R, Gil-Nagel A, Raicevic S, Ristic AJ, Schijns O, Beckervordersandforth J, San Antonio-Arce MV, Rumia J, Blumcke I and Braun KP.
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Neurology . 102(4): 208007-208007.
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Cobo-Cobo T, Ferrero-Martinez SI, Haavisto A, Luokola P, Sanchez-Garcia AB, Bosch J, Gene-Giralt A, Murillo C, Rueda C, González-de la Presa B, Santamaria S, Ponce J, Boada D and Palacio-Navarro A.
A multivariable prediction model for intra-amniotic infection in patients with preterm labor and intact membranes including a point of care system that measures amniotic fluid MMP-8
JOURNAL OF PERINATAL MEDICINE . 52(2): 136-142.
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Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I.
Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy
Frontiers in Cell and Developmental Biology . 12: .
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Bellido-Castillo E, López-Sala A, Aparicio J, Cuadras-Palleja D and Palacio-Navarro A.
Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.
REVISTA DE NEUROLOGIA . 78(3): 61-71.
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Schijns OEMG, Delev D, von Lehe M, van Roost D, Rössler K, Theys T, Auer C, Blauwblomme T, Budke M, Campos AR, Candela-Cantó SA, Clusmann H, Dorfer C, Dorfmüller G, Egge A, Eröss L, Ferrand-Sorbets S, Giordano F, Honegger J, Isler C, Ivanovic J, Kalbhenn T, Karppinen A, Krayenbühl N, van Lanen RHGJ, Marras CE, Mavridis I, Nilsson D, Onken J, Raftopoulos C, Roth J, Rumia J, Sauvigny T, Scavarda D, Schaller K, Scheiwe C, Schuind S, Seromenho-Santos A and Fountas K.
Functional hemispheric disconnection procedures for chronic epilepsy: history, indications, techniques, complications and current practice in Europe. A consensus statement on behalf of the EANS functional neurosurgery section.
Brain and Spine . 4: 102754-102754.
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Hinojosa J, Candela-Cantó SA, Becerra V, Muchart-Lopez J, Gómez-Chiari M, Rumia J and Aparicio J.
Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.
Advances and technical standards in neurosurgery . 50: 119-145.