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Ana Camacho

Hospital Universitario 12 De Octubre

34H指数
161论文数
3.8K被引数
收录论文 42
发表时间
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Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes癫痫和发育性脑病继发于15号染色体倒位-重复：癫痫特征和治疗效果的描述
errEpilepsia
IF6.6
err2026-05-25
err0
PREAI
errCristina Benítez-Provedo; Marta García-Fernández; Eva Gutiérrez-Delicado; Elena González-Alguacil; Nelmar Valentina Ortiz-Cabrera; Bárbara Fernández-Garoz; Juan José García Peñas; Nuria Lamagrande Casanova; María Ballarà-Petitbò; Anna Duat Rodríguez; Irene Sánchez-Miranda Román; Antonio Gil-Nagel Rein; María de Toledo; Beatriz González-Giráldez; Rebeca Losada-Del Pozo; Elena Martínez-Cayuelas; María Socorro Pérez-Poyato; Eulalia Turon-Viñas; Gema Iglesias-Escalera; J. M. Ramos-Fernández; Ramón Cancho-Candela; Mario Urbano-Martín; María Vázquez-López; Salvador Ibáñez-Mico; Joaquín Alejandro Fernández-Ramos; Desiré González Barrios; Fernando Ferragut; Jose Antonio Antón Blasco; Cristina Castaño-De la Mota; Pilar Gonzalez-Santiago; Ana Camacho; David Conejo; Juan Pedro Navarro-Romero; Víctor Soto-Insuga
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Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy更正：SYNGAP1脑病的脑电图表现发育结局
errFrontiers in Cell and Developmental Biology
IF4.3
err2026-05-18
err0
errOAAI
errJR Juliana Ribeiro-Constante; AT Alba Tristán-Noguero; FF Fernando Francisco Martínez Calvo; SI Salvador Ibañez-Mico; JL José Luis Peña Segura; JM José Miguel Ramos-Fernández; MD María del Carmen Moyano Chicano; RC Rafael Camino León; VS Víctor Soto Insuga; EG Elena González Alguacil; CV Carlos Valera Dávila; AF Alberto Fernández-Jaén; LP Laura Plans; AC Ana Camacho; NV Nuria Visa-Reñé; MD María del Pilar Martin-Tamayo Blázquez; FP Fernando Paredes-Carmona; IM Itxaso Marti-Carrera; AH Aránzazu Hernández-Fabián; MT Meritxell Tomas Davi; MC Merce Casadesus Sanchez; LC Laura Cuesta Herraiz; PF Patricia Fuentes Pita; TB Teresa Bermejo Gonzalez; MO Mar O’Callaghan; FF Federico Felipe Iglesias Santa Polonia; MR María Rosario Cazorla; MT María Teresa Ferrando Lucas; AG Antonio González-Meneses; JS Júlia Sala-Coromina; AM Alfons Macaya; AL Amaia Lasa-Aranzasti; AM Anna Ma Cueto-González; FV Francisca Valera Párraga; JC Jaume Campistol Plana; MS Mercedes Serrano; XA Xenia Alonso; DD Diego Del Castillo-Berges; MS Marc Schwartz-Palleja; SI Sofía Illescas; AR Alia Ramírez Camacho; OS Oscar Sans Capdevila; AG Angeles García-Cazorla; ÀB Àlex Bayés; IA Itziar Alonso-Colmenero
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Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathyG蛋白中保守的开关III区域的缺失会导致严重的儿科脑病。
errScience Signaling
IF6.6
err2025-10-28
err0
PREAI
errMikhail Savitsky; Yonika A. Larasati; Gonzalo P. Solis; Alexey Koval; Ana Camacho; Noemí Núñez; Olivier Patat; Elisabeth Wallach; Serena Galosi; Maria Novelli; Simone Martinelli; Vincenzo Leuzzi; Vladimir L. Katanaev
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Epilepsy in Duchenne and Becker muscular dystrophies
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-05-01
err0
errOAAI
errGomez, Jesus Alfonso Armijo; Fernandez-Garcia, Miguel A.; Camacho, Ana; Liz, Marlin; Ortez, Carlos; Lafuente-Hidalgo, Miguel; Bravo-de Laguna, Laura Toledo; Estevez-Arias, Berta; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Dominguez-Carral, Jana; Nascimento, Andres; Natera-de Benito, Daniel
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-05-16
err9
errOAAI
errJustel, 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
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Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome
errJOURNAL OF CLINICAL LIPIDOLOGY
IF4.6
err2023-03-01
err9
PREAI
errRioja, Jose; Ariza, Maria Jose; Benitez-Toledo, Maria Jose; Espildora-Hernandez, Javier; Coca-Prieto, Inmaculada; Arrobas-Velilla, Teresa; Camacho, Ana; Olivecrona, Gunilla; Sanchez-Chaparro, Miguel Angel; Valdivielso, Pedro
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err收藏
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-12-19
err12
errOAAI
errSegarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Teresa Sanchez-Calvin, Maria; Camacho, Ana; Rivas, Eloy; Campo-Barasoain, Andrea; Madruga, Marcos; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andres; Codina, Anna; Jose Rodriguez, Maria; Gallano, Pia; Gonzalez-Quereda, Lidia
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Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study脊髓性肌萎缩症治疗不确定性下的治疗决策: 决策-SMA研究的结果
errNEUROLOGY AND THERAPY
IF4.8
err2022-06-03
err4
errOAAI
errSaposnik, Gustavo; Camacho, Ana; Diaz-Abos, Paola; Branas-Pampillon, Maria; Sanchez-Menendez, Victoria; Cabello-Moruno, Rosana; Terzaghi, Maria; Maurino, Jorge; Malaga, Ignacio
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2022-05-12
err4
errOAAI
errBarbosa-Gouveia, Sofia; Eugenia Vazquez-Mosquera, Maria; Gonzalez-Vioque, Emiliano; Hermida-Ameijeiras, Alvaro; Sanchez-Pintos, Paula; Jose de Castro, Maria; Leon, Soraya Ramiro; Gil-Fournier, Belen; Dominguez-Gonzalez, Cristina; Camacho Salas, Ana; Negrao, Luis; Fineza, Isabel; Laranjeira, Francisco; Luz Couce, Maria
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
errBRAIN
IF11.7
err2020-09-01
err47
errOAAI
errAlonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; van der Kooi, A. J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi
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Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2020-06-02
err8
PREAI
errCamacho, Ana; Martinez, Beatriz; Alvarez, Sara; Gil-Fournier, Belen; Ramiro, Soraya; Hernandez-Lain, Aurelio; Nunez, Noemi; Simon, Rogelio
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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2019-11-08
err47
errOAAI
errFernandez-Marmiesse, Ana; Roca, Iria; Diaz-Flores, Felicitas; Cantarin, Veronica; Socorro Perez-Poyato, Ma; Fontalba, Ana; Laranjeira, Francisco; Quintans, Sofia; Moldovan, Oana; Felgueroso, Blanca; Rodriguez-Pedreira, Montserrat; Simon, Rogelio; Camacho, Ana; Quijada, Pilar; Ibanez-Mico, Salvador; Rosario Domingno, Ma; Benito, Carmen; Calvo, Rocio; Perez-Cejas, Antonia; Llanos Carrasco, Ma; Ramos, Feliciano; Luz Couce, Ma; Luz Ruiz-Falco, Ma; Gutierrez-Solana, Luis; Martinez-Atienza, Margarita
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Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society
errJOURNAL OF CLINICAL LIPIDOLOGY
IF4.6
err2018-11-01
err29
PREAI
errJose Ariza, Maria; Rioja, Jose; Ibarretxe, Daiana; Camacho, Ana; Luis Diaz-Diaz, Jose; Mangas, Alipio; Carbayo-Herencia, Julio A.; Ruiz-Ocana, Pablo; Lamiquiz-Moneo, Itziar; Mosquera, Daniel; Saenz, Pedro; Masana, Luis; Muniz-Grijalvo, Ovidio; Perez-Calahorra, Sofia; Valdivielso, Pedro
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err收藏
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
errANNALS OF NEUROLOGY
IF7.7
err2018-07-27
err93
errOAAI
errOates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Toepf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik-Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Boennemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G.
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
errSCIENTIFIC REPORTS
IF3.9
err2017-07-27
err23
errOAAI
errSivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; Garcia-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernandez-Torron, Roberto; Lopez de Munain, Adolfo; Marquez-Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa, Isabel; Lia Frongia, Anna; Nascimento, Andres; Ortez, Carlos; del Mar Garcia-Romero, Maria; Ignacio Pascual, Samuel; Lara Pelayo-Negro, Ana; Berciano, Jose; Guerrero, Antonio; Casasnovas, Carlos; Camacho, Ana; Esteban, Jesus; Jose Chumillas, Maria; Barreiro, Marisa; Diaz, Carmen; Palau, Francesc; Jesus Vilchez, Juan; Espinos, Carmen; Sevilla, Teresa
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Pediatric Multiple Sclerosis Presenting as Area Postrema Syndrome
errPEDIATRIC NEUROLOGY
IF2.1
err2017-05-01
err9
PREAI
errVila-Bedmar, Sara; Ostos-Moliz, Fernando; Camacho-Salas, Ana
err分享
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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2016-03-02
err33
errOAAI
errMicalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria
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Neurocutaneous Melanosis: An Illustrative Patient
errPEDIATRIC NEUROLOGY
IF2.1
err2014-09-01
err2
PREAI
errGuerra-Garcia, Pilar; Martinez-de-Aragon, Ana; Camacho, Ana
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err收藏
Subcutaneous Route for Refractory Epilepsy
errPEDIATRIC NEUROLOGY
IF2.1
err2013-01-01
err0
errOAAI
errIgnacio Gonzalez-Granado, Luis; Simon, Rogelio; Camacho-Salas, Ana
err分享
err收藏
Levetiracetam-Induced Reversible Autistic Regression
errPEDIATRIC NEUROLOGY
IF2.1
err2012-07-01
err12
PREAI
errCamacho, Ana; Carlos Espin, Jose; Nunez, Noemi; Simon, Rogelio
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
S
Sian Ellard
H 指数: 118 · 论文数: 918
D
Daniel G. MacArthur
H 指数: 113 · 论文数: 450
E
Enrico Bertini
H 指数: 113 · 论文数: 1.3K
E
Eric P. Hoffman
H 指数: 113 · 论文数: 1.3K
E
Eugenio Mercuri
H 指数: 108 · 论文数: 1.1K
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