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J

Jana Domínguez‐Carral

universitat de barcelona
H指数:9
被引数:377
浏览量:0

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教育背景

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工作经历

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荣誉奖项

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Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

GNAO1相关疾病中的纵向表型轨迹：定义疾病进展和临床特征

Annals of Neurology
IF7.7
2026-04-170
OAAI
Jana Domínguez-Carral MD; Ana María Domínguez Cobo MD; Sol Balsells MSc; Anna Aguilar-Ros BS; Chu-Ting Chang MSc; William G. Ludlam PhD; Kathryn Yang MD; Katerina Bernardi MD; Micaela Chinigioli MD; Ainara Salazar-Villacorta MD; Veronica Di Pisa MD; Nuria Lamagrande-Casanova MD; Elena González-Alguacil MD; Beatriz De la Casa-Fages MD, PhD; Akihisa Okumura MD; Josefina Rodríguez MD; Ayush Agarwal MD; Daniela Muñoz-Chesta MD; Carolina Reynoso-Osnayo MD; Amy Lin MD; Brahim Tabarki MD; Jobaida Parvin MD; Adolfo Alberto Gallo MD; Andreia Forno MD; Fabian Maass MD; Johnny Montiel Blanco MD; Salomé Nasif MD; Elizabeth Jennions MD; Jorge Luis Ramón-Gómez MD; Helene Verhelst MD, PhD; Juan José Nieto Barceló MD; Dunja Čokolić Petrović MD; Luz Victoria García Ruiz MD; Christoph van Riesen MD; Paulo Rego Sousa MD; Maria del Pilar Massaro Sanchez MD; Husnea Ara Khan MD; Wejdan Hakami MD; Jennifer Friedman MD; Iván Espinoza-Quinteros MD; Monica Troncoso MD; Divyani Garg MD; Micaela Pauni MD; Hirokazu Kurahashi MD; María Concepción Miranda-Herrero MD, PhD; Anna Duat-Rodriguez MD; Luca Soliani MD; Manju A. Kurian MD, PhD; Angeles Schteinschnaider MD; Siddharth Srivastava MD; Darius Ebrahimi-Fakhari MD, PhD; Kirill A. Martemyanov PhD; Juan Darío Ortigoza-Escobar MD, PhD
Real-world use of cenobamate in pediatric focal epilepsies and developmental epileptic encephalopathies: A multicenter retrospective series

cenobamate在儿科局灶性癫痫和发育性癫痫性脑病中的真实世界应用：一项多中心回顾性系列研究

Epilepsia
IF6.6
2025-07-300
PRE
Víctor Soto-Insuga; Adrián Valls Carbó; Anna Gretel Pinzón-Acevedo; Elena González-Alguacil; Juan José García Peñas; Andrea Sariego Jamardo; Gemma Aznar-Laín; Salvador Ibáñez-Micó; Helena Alarcón Martínez; Raquel Buenache; Saray Rekarte; Andrea Parejo Olivera; Ezequiel Tuero-Montiel; Jana DomínguezCarral; María López; Ainhoa García Ribes; María Jesús Martínez González; Eva Arias; Adrián García Ron; Susana Boronat; Eulalia Turón Viñas; Dolors Casellas; Virginia Navarro; David Conejo; Elena Miravet; Irene Sánchez-Miranda Román; Antonio Gil Nagel-Rein; María Muñoz Cabeza; Patricia Smeyers; Ángel Aledo-Serrano
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-05-169
OAAI
Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Alexandra Julia-Palacios, Natalia; Ortez, Carlos; Luisa Poch, Maria; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernandez-Lain, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; del Carmen Castro, Margarita; de la Osa-langreo, Alberto; Pena-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Ignacio Pascual-Pascual, Samuel; Lopez de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzabal, Alfonso; Jimenez-Mallebrera, Cecilia; Dominguez-Gonzalez, Cristina; Nascimento, Andres; Garcia-Cazorla, Angels; Natera-de Benito, Daniel
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
EPILEPSIA
IF6.6
2020-04-0817
PREAI
Natera-de Benito, Daniel; Muchart, Jordi; Itzep, Debora; Ortez, Carlos; Gonzalez-Quereda, Lidia; Gallano, Pia; Ramirez, Alia; Aparicio, Javier; Dominguez-Carral, Jana; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Pardo Cardozo, Nathalia; Cuadras, Daniel; Codina, Anna; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Palau, Francesc; Colomer, Jaume; Arzimanoglou, Alexis; Nascimento, Andres; San Antonio-Arce, Victoria
Retrospective natural history of thymidine kinase 2 deficiency
JOURNAL OF MEDICAL GENETICS
IF3.7
2018-03-3072
OAAI
Garone, Caterina; Taylor, Robert W.; Nascimento, Andres; Poulton, Joanna; Fratter, Carl; Dominguez-Gonzalez, Cristina; Evans, Julie C.; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M. Imelda; McFarland, Robert; Barca, Emanuele; Gomez, Carlos Lopez; Jayawant, Sandeep; Thomas, Neil D.; Manzur, Adnan Y.; Kleinsteuber, Karin; Martin, Miguel A.; Kerr, Timothy; Gorman, Grainne S.; Sommerville, Ewen W.; Chinnery, Patrick F.; Hofer, Monika; Karch, Christoph; Ralph, Jeffrey; Camara, Yolanda; Madruga-Garrido, Marcos; Dominguez-Carral, Jana; Ortez, Carlos; Emperador, Sonia; Montoya, Julio; Chakrapani, Anupam; Kriger, Joshua F.; Schoenaker, Robert; Levin, Bruce; Thompson, John L. P.; Long, Yuelin; Rahman, Shamima; Donati, Maria Alice; DiMauro, Salvatore; Hirano, Michio

研究方向

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J
Juan Darío Ortigoza‐Escobar
H 指数:23论文数:113被引数:1,666
A
A. Nascimento
H 指数:39论文数:275被引数:4,948
C
C. Ortez
H 指数:28论文数:206被引数:3,016
D
Daniel Natera‐de Benito
H 指数:22论文数:191被引数:1,769
L
Luca Soliani
H 指数:7论文数:31被引数:128
I
Iván O. Espinoza
H 指数:5论文数:40被引数:94
K
Kirill A. Martemyanov
H 指数:58论文数:322被引数:9,625
L
Laura Cif
H 指数:34论文数:122被引数:3,580
C
Cristina Domínguez‐González
H 指数:27论文数:178被引数:2,517
A
Ana Camacho
H 指数:34论文数:161被引数:3,776