Publicaciones
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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.
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Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R.
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
MOVEMENT DISORDERS . : .
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Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano, EF, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
MOVEMENT DISORDERS . : .
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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 . : .
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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 citas: 2
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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 . : .
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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.
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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 . : .
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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 . : .