Publicaciones
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Fons-Estupina C, Ge YH, Rasmussen LK, Shi YS and Bayat A.
Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism.
JOURNAL OF MEDICAL GENETICS . : .
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Quiroz V, Alecu JE, Zubair U, Bernardi K, Zaman Z, Rong J, Tam A, Kunta A, Agianda HP, Battaglia N, Schmidt HJD, Resch D, Wyman N, Vogt LM, Uraba WB, Becker L, Kothur K, Gill D, Suarez B, Jofre JI, Arias C, Castiglioni C, da Silva Möller PD, Pinto Duarte AF, Eggers-Lisboa A, Ríos-Pohl L, Gonzalez-Ubilla M, Chaudhari C, Salazar-Villacorta A, Tian X, Dai L, Ding C, Zamani M, Nourbakhsh P, Shariati G, Pringsheim T, Lim WK, Bartolini E, Stamelou M, Bhatia P, Kruer MC, Desai S, Iype M, Necpál J, Crosiers D, Jones HF, Perez-Sanchez JR, Unal ED, Lopez-Ariztegui N, Kola S, Lin WS, Mansour AH, Triki CC, Fernández-Alvarez E, Roze E, Sahu J, Doja A, Nardocci N, Caputo D, Koy A, Bhate S, Kaliakatsos M, Robinson R, Hassell J, Pons R, Munchau A, Soliani L, Zea-Vera A, Tochen L, Morales-Briceño H, Dale RC, D'Gama A, Loddenkemper T, Pearl PL, Mohammad SS, Kurian MA, Gorodetsky C, Ortigoza-Escobar JD, Schierbaum L, Yang K and Ebrahimi-Fakhari D.
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
BRAIN . : .
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Schijns Olaf EMG, Delev D, von Lehe M, van Roost D, Rössler K, Theys T, Auer C, Blauwblomme T, Budke M, Campos AR, Candela-Cantó SA, Seromenho-Santos A and Fountas K.
Functional hemispheric disconnection procedures for chronic epilepsy: history, indications, techniques, complications and current practice in Europe. A consensus statement on behalf of the EANS functional neurosurgery section
Brain and Spine . 4: 102754. Nº de citas: 5
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Cobo-Cobo T, Aldecoa V, Ferrero-Martinez SI, Balcells J, Contreras AL, Valenzuela Palafoll Anna, Pastor M, Boada D, Herranz-Barbero A, Izquierdo-Renau M, Murillo C, Río AD, Hernández-Meneses M, Fidalgo B, Rodriguez-Reyes M, Figueras-Retuerta F, Gratacós E and Palacio-Navarro A.
Preterm prelabor rupture of membranes: the use of amniocentesis to detect intraamniotic infection reduces maternal and neonatal duration of antibiotic exposure.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY . : .
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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 . : .
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Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P and Di Bonaventura C.
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
Epilepsia . : . Nº de citas: 8
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Xiol-Viñas C, Olival J, Martorell-Sampol L and Ortigoza-Escobar JD.
A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.
CLINICAL GENETICS . : .
