Publicacions
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Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Schreiber R, Ortigoza-Escobar JD and Kunzelmann K.
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia
BRAIN . 147(6): 1982-1995. Nº de cites: 5
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Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Bindoff, LA.
Status epilepticus in POLG disease: a large multinational study
JOURNAL OF NEUROLOGY . : . Nº de cites: 4
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Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons-Estupina C, Trivisano M, Kabulashvili T, Specchio N, Lesca G and Arzimanoglou A.
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Epilepsia Open . 9(3): 996-1006.
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Zhang D, Bo K, Montejo R, Sánchez-Polán M, Silva-José C, Palacio-Navarro A and Barakat R.
Influence of pelvic floor muscle training alone or as part of a general physical activity program during pregnancy on urinary incontinence, episiotomy and third- or fourth-degree perineal tear: Systematic review and meta-analysis of randomized clinical trials
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA . 103(6): 1015-1027. Nº de cites: 2
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Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
BRAIN . 147(5): 1653-1666. Nº de cites: 5
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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 . 39(6): 983-995. Nº de cites: 2
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Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Frontiers in Cell and Developmental Biology . 12: 1321282-1321282. Nº de cites: 3
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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): . Nº de cites: 1
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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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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. Nº de cites: 2