Publications
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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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Nou-Fontanet L, Marti-Sanchez L, Martorell-Sampol L, Casas J and Ortigoza-Escobar JD.
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Movement Disorders Clinical Practice . 11(7): 889-893.
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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. Number of citations: 4
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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 . : . Number of citations: 1
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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. Number of citations: 1
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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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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. Number of citations: 3