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Mercedes Serrano

hospital sant joan de deu and institut de recerca sant joan de deu

32H指数
144论文数
2.7K被引数
收录论文 54
发表时间
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Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDGII期开放标签研究结果：评估GLM101在三例PMM2-CDG成年患者中的安全性、耐受性及对共济失调的影响
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-07
err0
errOAAI
errMercedes Serrano; Florencia Epifani; Rose Marino; Peter McWilliams
err分享
err收藏
Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine PathwayPMM2-CDG的蛋白质-代谢组学分析揭示了视黄酸合成、肌醇和己糖胺通路的功能失调
errJournal of Inherited Metabolic Disease
IF3.8
err2026-08-21
err0
errOAAI
errDiana Gallego; Giuseppina Andreotti; Maria Monticelli; Debora Paris; Arturo Martín-Martínez; Alejandra Gámez; Mercedes Serrano; José Córdoba-Caballero; Pedro Seoane; Juan A. G. Ranea; Belén Pérez
err分享
err收藏
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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err收藏
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring探索PMM2-CDG的循环miRNA特征：关于诊断、分层和监测的初步见解
errJournal of Inherited Metabolic Disease
IF3.8
err2025-10-13
err0
errOAAI
errFlorencia Epifani; Lluc Cabus; Gregorio A. Nolasco; Mercè Bolasell; Jennifer Pérez; Adrián Alcalá; Patricia Fernández; Esther Lizano; Gisela Márquez; Sonia Belmonte; Sílvia Carbonell-Sala; Julien Lagarde; Joao Curado; Cristina Hernando-Davalillo; Mercedes Serrano
err分享
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Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics扩展遗传性痉挛性截瘫痷的范围：脑瘫中双等位基因SPAST变异的模拟
errAnnals of Clinical and Translational Neurology
IF3.9
err2025-09-26
err0
errOAAI
errGregorio A. Nolasco; Mònica Roldán; Yalda Jamshidi; Ioannis Georvasilis; Rocío Jadraque Rodríguez; Reza Boostani; Ali Shoeibi; Lluís Armengol; Anna Codina; Ehsan Ghayoor Karimiani; Cristina Hernando-Davalillo; Loreto Martorell; María Luisa Ramírez Almaraz; Jordi Muchart; Carlos Ortez; Andrés Nascimento; Roser Urreizti; Daniel Natera-de Benito; Mercedes Serrano
err分享
err收藏
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialUBE3A-ATS反义寡核苷酸药物Rugonersen在Angelman综合征儿童中的1期临床试验
errNature Medicine
IF50
err2025-07-11
err0
PREAI
errJörg F. Hipp; Carlos A. Bacino; Lynne M. Bird; Ina Bruenig-Traebert; Daniel Chan; Marie Claire de Wit; Paulo Fontoura; Gregory Hooper; Ravi Jagasia; Michelle L. Krishnan; Lorraine Murtagh; Alessandro Noci; Ana Roche Martínez; Dietmar Schwab; Mercedes Serrano; Mark D. Shen; Julian Tillmann; Jorrit Tjeertes; Brenda Vincenzi; Elizabeth Berry-Kravis; Azad Bonni
err分享
err收藏
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationSLC35A2-CDG中糖鞘脂合成受损，且可通过添加半乳糖得到改善。
errCellular and Molecular Life Sciences
IF6.2
err2025-06-27
err0
errOAAI
errAndrea Jáñez Pedrayes; Sam De Craemer; Jakub Idkowiak; Dries Verdegem; Christian Thiel; Rita Barone; Mercedes Serrano; Tomáš Honzík; Eva Morava; Pieter Vermeersch; François Foulquier; Willy Morelle; Johannes V. Swinnen; Daisy Rymen; David Cassiman; Bart Ghesquière; Peter Witters
err分享
err收藏
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community绘制先天性糖基化障碍 (CDG) 的诊断奥德赛: 来自社区的见解
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-11-01
err0
errOAAI
errGranjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.; Serrano, Mercedes; Videira, Paula A.; dos Reis Ferreira, Vanessa
err分享
err收藏
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
errHUMAN MUTATION
IF3.7
err2024-10-03
err0
errOAAI
errPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
err分享
err收藏
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
errAMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
err2024-08-15
err0
PREAI
errNeeman, Bar; Sudhakar, Sniya; Biswas, Asthik; Rosenblum, Jessica; Sidpra, Jai; D'Arco, Felice; Lobel, Ulrike; Gomez-Chiari, Marta; Serrano, Mercedes; Bolasell, Merce; Reddy, Kartik; Ben-Sira, Liat; Zakzouk, Reem; Al-Hashem, Amal; Mirsky, David M.; Patel, Rajan; Radhakrishnan, Rupa; Shekdar, Karuna; Whitehead, Matthew T.; Mankad, Kish
err分享
err收藏
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review扩大TRAF7-Related心脏，面部和数字异常的表型谱与发育迟缓: 11例新病例报告和文献复习
errPEDIATRIC NEUROLOGY
IF2.1
err2024-06-01
err0
PREAI
errPalma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser
err分享
err收藏
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
errSCIENTIFIC REPORTS
IF3.9
err2023-12-20
err0
errOAAI
errEpifani, Florencia; Pujol Serra, Susana Maria; Llorens, Marta; Balcells, Sol; Nolasco, Gregorio; Bolasell, Merce; Aguilera-Albesa, Sergio; Cancho Candela, Ramon; Cuevas Cervera, Jose Luis; Garcia Sanchez, Veronica; Garcia, Oscar; Miranda-Herrero, Maria Concepcion; Moreno-Lozano, Pedro J.; Robles, Bernabe; Roldan Aparicio, Susana; Velazquez Fragua, Ramon; Serrano, Mercedes
err分享
err收藏
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias非扩张性脊髓小脑共济失调的极端表型异质性
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-07-01
err16
errOAAI
errCunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
err分享
err收藏
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Schaaf-yang综合征病理生理学的进展: 从床边到截短的MAGEL2的亚细胞分析
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-09-07
err5
errOAAI
errCastilla-Vallmanya, Laura; Centeno-Pla, Monica; Serrano, Mercedes; Franco-Valls, Hector; Martinez-Cabrera, Raul; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A. G.; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J.; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser
err分享
err收藏
Targeting the Gut Microbiome in Prader-Willi Syndrome
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2021-11-16
err1
errOAAI
errRamon-Krauel, Marta; Amat-Bou, Montse; Serrano, Mercedes; Martinez-Monseny, Antonio F.; Lerin, Carles
err分享
err收藏
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies剖析磷酸变质酶2缺陷细胞的转录程序: 淋巴母细胞b细胞系作为先天性糖基化研究的有价值模型
errGLYCOBIOLOGY
IF3.3
err2021-08-18
err4
PREAI
errParrado, Antonio; Rubio, Gonzalo; Serrano, Mercedes; De la Morena-Barrio, Maria Eugenia; Ibanez-Mico, Salvador; Ruiz-Lafuente, Natalia; Schwartz-Albiez, Reinhard; Esteve-Sole, Ana; Alsina, Laia; Corral, Javier; Hernandez-Caselles, Trinidad
err分享
err收藏
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?是否应该对磷酸变位酶2-CDG (PMM2-CDG) 患者进行肾上腺功能不全筛查？
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2021-08-01
err7
errOAAI
errCechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Serrano, Mercedes; Barone, Rita; De Lonlay, Pascale; Schiff, Manuel; Witters, Peter; Lam, Christina; Patterson, Marc; Janssen, Mirian C. H.; Correia, Joana; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Plotkin, Horacio; Morava, Eva; Sarafoglou, Kyriakie
err分享
err收藏
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer利用队列分析仪对基于人类表型本体数据的遗传疾病队列进行评估、过滤和聚类
errJOURNAL OF PERSONALIZED MEDICINE
IF3
err2021-07-27
err2
errOAAI
errRojano, Elena; Cordoba-Caballero, Jose; Jabato, Fernando M.; Gallego, Diana; Serrano, Mercedes; Perez, Belen; Pares-Aguilar, Alvaro; Perkins, James R.; Ranea, Juan A. G.; Seoane-Zonjic, Pedro
err分享
err收藏
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
errHUMAN MUTATION
IF3.7
err2020-12-21
err14
errOAAI
errCastiglioni, Claudia; Feillet, Francois; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando-Davalillo, Cristina; Montero, Raquel; Dupre, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier-Barrot, Sandrine; Serrano, Mercedes
err分享
err收藏
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features
errPEDIATRIC ALLERGY AND IMMUNOLOGY
IF4.5
err2020-11-06
err7
PREAI
errGarcia-Garcia, Ana; Buendia Arellano, Monserrat; Deya-Martinez, Angela; Lozano Blasco, Jaime; Serrano, Mercedes; van den Rym, Ana; Garcia-Solis, Blanca; Esteve-Sole, Ana; Yiyi, Luo; Vlagea, Alexandru; Solanich, Xavier; Fisher, Megan R.; Lyons, Jonathan J.; de Diego, Rebeca Perez; Alsina, Laia
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
A
Alexis Brice
H 指数: 153 · 论文数: 1.2K
H
Henry Houlden
H 指数: 120 · 论文数: 1.5K
A
Alexandra Dürr
H 指数: 119 · 论文数: 858
E
Enrico Bertini
H 指数: 113 · 论文数: 1.3K
L
Lüdger Schöls
H 指数: 98 · 论文数: 1.0K
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