Publications
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Carmona-Hidalgo, B, Martín-Gómez, C, Herrera-Ramos, E, Rodríguez-López, R, Fontanet, LN, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
PLoS One . 19(7): .
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Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD.
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 110-117.
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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 . 271(7): 3743-3753. Number of citations: 5
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Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ
THYROID . 34(7): 942-948.
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Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.
Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances
WORLD NEUROSURGERY . 187: 124-132. Number of citations: 2
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Domínguez-Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L and Ortigoza-Escobar JD.
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies
FRONTIERS IN NEUROLOGY . 15: 1403815-1403815. Number of citations: 5
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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. Number of citations: 7
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Amin, S, Moller, RS, Aledo-Serrano, A, Arzimanoglou A, Bager, P, Józwiak, S, Kluger, GJ, López-Cabeza, S, Nabbout, R, Partridge, CA, Schubert-Bast, S, Specchio, N and Kälviäinen, R.
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey
Epilepsia Open . 9(3): 832-849. Number of citations: 3
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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. Number of citations: 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. Number of citations: 2