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R

Rafael Artuch

ciberer spanish biomedical research centre in rare diseases

57H指数
411论文数
1.1W被引数
收录论文 166
发表时间
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Patient-Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome患者来源的成纤维细胞作为Kearns–Sayre综合征的临床相关模型
errAnnals of Neurology
IF7.7
err2026-09-18
err0
errOAAI
errLaura Valls-Roca MSc; Adrià Vilaseca-Capel MSc; Judith Cantó-Santos PhD; Ester Tobías BSc; Félix Andújar-Sánchez MSc; Laia Farré-Tarrats MSc; Frederic Tort PhD; Carles Rentero PhD; Carlos Enrich PhD; Virginia López PhD; Juan R. Tejedor PhD; Anna Esteve-Codina PhD; Cristina Núñez de Arenas PhD; Pedro J. Moreno-Lozano MD; José C. Milisenda MD, PhD; Mar O'Callaghan MD, PhD; Teresa García-Silva MD, PhD; Montserrat Morales-Conejo MD, PhD; Mario F. Fraga PhD; Rafael Artuch MD, PhD; Miguel Á. Martín PhD; José M. Cuezva PhD; Ana Matas MD, PhD; Glòria Garrabou PhD; Mariona Guitart-Mampel PhD
err分享
err收藏
CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas中枢神经系统分布及PI3K/AKT抑制剂inavolisib和ipatasertib在儿童型弥漫性高等级胶质瘤中的临床前活性
errCancer Chemotherapy and Pharmacology
IF2.3
err2026-09-17
err0
errOAAI
errLeire Balaguer-Lluna; Clàudia Resa-Parés; Lucas Brstilo; Alberto Gómez-Caballero; Mercè Baulenas-Farrés; Jacqueline Mohr; Yutian Hu; Rosario Aschero; Ana Rodríguez; Gaia Botteri; Eva Rodríguez; Lydia Li-Chen; Raúl Mañogil; Federica Marino; Nuria Martínez-Velasco; Alex Ruano; Ángela García-Pelayo; Auriane Giron; Jaume Mora; Cinzia Lavarino; Macarena Sánchez-Navarro; Meritxell Teixidó; Aida Ormazabal; Rafael Artuch; Nora Unceta; Paula Schaiquevich; Angel M. Carcaboso
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Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result正常新生儿筛查结果后意外诊断出的经典同型胱氨酸尿症
errInternational Journal of Neonatal Screening
IF4
err2026-09-05
err0
errOAAI
errJosé Manuel González de Aledo-Castillo; Mercedes Casado-Río; Sonia Pajares; Silvia Meavilla Olivas; Laura Gort; Laura Martí Sánchez; Abraham J. Paredes-Fuentes; Leticia Pias-Peleteiro; Marta Gomez-Chiari; Montserrat Quintana Vidaurri; Rosa María López-Galera; Ana Argudo-Ramírez; Jaime Sainz de Medrano; Rafael Artuch Iriberri; Judit García-Villoria; Aída Ormazábal Herrero
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Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals用于建立小儿血清铜参考区间的年龄和炎症调整模型的概念验证
errClinical Nutrition
IF7.4
err2026-01-25
err0
PREAI
errHelena Rodriguez-Gonzalez; Angela Arias; Elisabet Poyatos; Mariela Mercedes de los Santos; Beatriz Minguez; Silvia Meavilla; Camila Garcia-Volpe; Ines Loverdos; Cristina Molera; Mercedes Casado; Aida Ormazabal; Alexandre Perera-Lluna; Rafael Artuch
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err收藏
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes diseaseElesclomol-铜疗法改善了两位Menkes病患儿的神经发育。
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-10-01
err0
errOAAI
errGodoy-Molina, Elena; Serrano, Natalia L.; Jimenez-Gonzalez, Aquilina; Villaronga, Miquel; Perez-Bryan, Rosa M. Marques; Varela-Fernandez, Ruben; Lotz-Esquivel, Stephanie; Tunon, Alba Hevia; Trivedi, Prachi P.; Horn, Nina; Standing, Joseph F.; Mangas-Sanjuan, Victor; Capdevila, Merce; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldan, Monica; Arango-Sancho, Pedro; Saez-Villafane, Monica; Ortiz-de-Urbina, Juan J.; Pieras-Lopez, Angela; Duero, Marta; Farre, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C.; Petris, Michael J.; Gohil, Vishal M.; Palau, Francesc
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err收藏
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy癫痫神经儿科患者大型队列的脑脊液氨基酸谱分析
errNeurobiology of Disease
IF5.6
err2025-09-10
err0
errOAAI
errHelena Rodriguez-Gonzalez; Laia Nou-Fontanet; Aida Ormazabal; Mercedes Casado; Ángela Arias; Leticia Pias-Peleteiro; Ana Gutierrez; Alexandre Perera-Lluna; Angels Garcia-Cazorla; Carmen Fons; Rafael Artuch
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Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesSLC31A1相关的发育性癫痫性脑病的临床与分子特征：13例新病例的启示
errBrain Communications
IF4.5
err2025-09-01
err0
errOAAI
errNatalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti
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Testing of a novel automated point-of-care analyzer for blood ammonium monitoring in a clinical setting测试一种新型自动床旁分析仪在临床环境中用于血液氨监测的效果
errANALYTICAL AND BIOANALYTICAL CHEMISTRY
IF3.8
err2025-04-23
err0
errOAAI
errRebollo-Calderon, Beatriz; Calvo-Lopez, Antonio; Ormazabal, Aida; Artuch, Rafael; Rosell-Ferrer, Javier; Alonso-Chamarro, Julian; Puyol, Mar
err分享
err收藏
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication大量儿科人群中的脑脊液同型香草酸和5-羟吲哚乙酸; 参考区间的建立以及疾病和药物的影响
errCLINICAL CHEMISTRY
IF6.3
err2024-09-27
err0
PREAI
errRodriguez-Gonzalez, Helena; Ormazabal, Aida; Casado, Mercedes; Arias, Angela Y.; Oliva, Clara; Barranco-Altirriba, Maria; Casadevall, Ricard; Garcia-Cuyas, Francesc; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Armangue, Thais; O'Callaghan, Maria M.; Julia-Palacios, Natalia; Darling, Alejandra; Ortigoza-Escobar, Juan Dario; Fons, Carmen; Garcia-Cazorla, Angels; Perera-Lluna, Alexandre; Artuch, Rafael
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Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia
errANTIOXIDANTS
IF6.6
err2024-08-09
err0
errOAAI
errMinguez, Beatriz; de Los Santos, Mariela; Garcia-Volpe, Camila; Molera, Cristina; Paredes-Fuentes, Abraham J.; Oliva, Clara; Arias, Angela; Rodriguez-Gonzalez, Helena; Yubero, Delia; Tondo, Mireia; Santos-Ocana, Carlos; Meavilla, Silvia; Artuch, Rafael
err分享
err收藏
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-07-01
err2
PREAI
errMorales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic
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err收藏
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy线粒体动力学失衡有助于X连锁肾上腺脑白质营养不良的发病机制
errBRAIN
IF11.7
err2024-05-20
err2
PREAI
errLaunay, Nathalie; Lopez-Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schluter, Agatha; Fourcade, Stephane; Paredes-Fuentes, Abraham J.; Artuch, Rafael; Casasnovas, Carlos; Ruiz, Montserrat; Pujol, Aurora
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Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter人源Asc1/CD98hc氨基酸转运蛋白的结构与转运机制
errNATURE COMMUNICATIONS
IF15.7
err2024-04-06
err1
errOAAI
errRullo-Tubau, Josep; Martinez-Molledo, Maria; Bartoccioni, Paola; Puch-Giner, Ignasi; Arias, Angela; Saen-Oon, Suwipa; Stephan-Otto Attolini, Camille; Artuch, Rafael; Diaz, Lucia; Guallar, Victor; Errasti-Murugarren, Ekaitz; Palacin, Manuel; Llorca, Oscar
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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree大型Leber遗传性视神经病变谱系中新的病理突变的鉴定和表征
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-04-06
err2
errOAAI
errEmperador, Sonia; Habbane, Mouna; Lopez-Gallardo, Ester; del Rio, Alejandro; Llobet, Laura; Mateo, Javier; Sanz-Lopez, Ana Maria; Fernandez-Garcia, Maria Jose; Sanchez-Tocino, Hortensia; Benbunan-Ferreiro, Sol; Calabuig-Goena, Maria; Narvaez-Palazon, Carlos; Fernandez-Vega, Beatriz; Gonzalez-Iglesias, Hector; Urreizti, Roser; Artuch, Rafael; Pacheu-Grau, David; Bayona-Bafaluy, Pilar; Montoya, Julio; Ruiz-Pesini, Eduardo
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err收藏
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes用于诊断先天性代谢错误的靶向超高效液相色谱串联质谱程序: 通过ERNDIM外部质量评估方案进行验证
errCLINICAL CHEMISTRY AND LABORATORY MEDICINE
IF3.7
err2024-03-11
err0
PREAI
errOliva, Clara; Arias, Angela; Ruiz-Sala, Pedro; Garcia-Villoria, Judit; Carling, Rachel; Bierau, Joergen; Ruijter, George J. G.; Casado, Mercedes; Ormazabal, Aida; Artuch, Rafael
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Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetinerbfox1突变斑马鱼的脑5-羟色胺减少，SSRI氟西汀的行为改变部分逆转
errPHARMACEUTICALS
IF4.8
err2024-02-16
err0
errOAAI
errAdel, Maja R.; Anton-Galindo, Ester; Gago-Garcia, Edurne; Arias-Dimas, Angela; Arenas, Concepcio; Artuch, Rafael; Cormand, Bru; Fernandez-Castillo, Noelia
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err收藏
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatmentGEMIN5突变与辅酶Q10缺乏症相关: 治疗后的长期随访
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-02-05
err8
errOAAI
errCascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael
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A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation深部脑刺激治疗的新型AIFM1-Related疾病表型
errMOVEMENT DISORDERS
IF7.6
err2023-10-03
err0
PREAI
errPijuan, Jordi; Sevrioukova, Irina F.; Garcia-Campos, Oscar; Hernaez, Mar; Gort, Laura; Gomez-Chiari, Marta; Jou, Cristina; Candela-Canto, Santiago; Rumia, Jordi; Artuch, Rafael; Palau, Francesc; Hoenicka, Janet; Ortigoza-Escobar, Juan Dario
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err收藏
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis用于推断包涵体肌炎分子参与者的整合多组学分析
errANTIOXIDANTS
IF6.6
err2023-08-19
err3
errOAAI
errCanto-Santos, Judith; Valls-Roca, Laura; Tobias, Ester; Oliva, Clara; Garcia-Garcia, Francesc Josep; Guitart-Mampel, Mariona; Andujar-Sanchez, Felix; Esteve-Codina, Anna; Martin-Mur, Beatriz; Padrosa, Joan; Aranega, Raquel; Moreno-Lozano, Pedro J.; Milisenda, Jose Cesar; Artuch, Rafael; Grau-Junyent, Josep M.; Garrabou, Gloria
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err收藏
The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria抗氧化剂L-麦格硫因可预防胱氨酸尿症Slc7a9-/-小鼠模型中的胱氨酸结石症
errREDOX BIOLOGY
IF11.9
err2023-08-01
err5
errOAAI
errMayayo-Vallverdu, Clara; de Heredia, Miguel Lopez; Prat, Esther; Gonzalez, Laura; Guarch, Meritxell Espino; Vilches, Clara; Munoz, Lourdes; Asensi, Miguel A.; Serra, Carmen; Llebaria, Amadeu; Casado, Mercedes; Artuch, Rafael; Garrabou, Gloria; Garcia-Roves, Pablo M.; Pallardo, Federico V.; Nunes, Virginia
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