Publicaciones
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Indelicato E, Carmona-Hidalgo B, Quintero J, Ortigoza-Escobar JD, Koy A, Salamon A, Tacik P, Muñoz-Delgado L, Giannini G, Reich M, Albanese A, Bäumer T, Grandas F, Jech R, Leonardos A, Mir P, Pérez-Dueñas B, Perez-Sanchez JR, Valldeoriola F, Zanni G, Vidailhet M, Rodríguez-López R, Blasco-Amaro JA, Reinhard C and Boesch S.
Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
EUROPEAN JOURNAL OF NEUROLOGY . 33(1): . Nº de citas: 1
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Martin-Gomez, Carmen, Molina-Linde, Juan M., Ortigoza-Escobar JD, Nou-Fontanet, Laia, Leger, Juliane and Blasco-Amaro, Juan Antonio.
Beyond chorea: a qualitative study of lived experiences in NKX2-1-related disorders
Humanities & Social Sciences Communications . 13(1): .
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Amato ME, Frías M, Cerisola A, Roldan-Molina M and Ortigoza-Escobar JD.
Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.
CLINICAL GENETICS . 108(6): 708-712.
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Kristensen, Erle, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Irenaeus, Pias-Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Majamaa, Kari, Karppa, Mikko, Martikainen, Mika H., Ortigoza-Escobar JD, Tangeraas, Trine, Berland, Siren, Sue, Carolyn M., Walker, Judith Sylvia, Harrison, Emma, Biggs, Heather, Horvath, Rita, Darin, Niklas, Rahman, Shamima and Hikmat, Omar.
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .
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Nou-Fontanet L, Ousingsawat J, Aziz M, Maroofian R, Karimiani EG, Fernández-López A, Candela-Cantó SA, Rumià J, Dominguez AM, Schreiber R, Kunzelmann K and Ortigoza-Escobar JD.
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca(2+) and K(+) Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
PEDIATRIC NEUROLOGY . 172: 46-52. Nº de citas: 1
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Bernardi, K, Ortigoza-Escobar JD, Domínguez-Carral J, Espinoza-Quinteros, I, Mendo, LD, Koy, A and Thiel, M.
Severe upper airway dysfunction in GNAO1-related disorders.
Italian Journal of Pediatrics . 51(1): 296-296.
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Maroofian R, Ortigoza-Escobar JD, Rohilla P, Alvi JR, Mushiba AM, Almontashiri NAM, Efthymiou S, Sultan T, Balla T and Houlden H.
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.
MOVEMENT DISORDERS . 40(10): 2243-2250.
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Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.
Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Movement Disorders Clinical Practice . 12(10): 1615-1621. Nº de citas: 2
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Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.
EPILEPSIA . 66(10): 3992-4005. Nº de citas: 2
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Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Brain Communications . 7(5): . Nº de citas: 3
