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L

Laura Gort

University of Barcelona
H指数:29
被引数:2,040

个人简介

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工作经历

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荣誉奖项

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TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis

TfR1缺乏超越联合免疫缺陷。线粒体功能和铁硫簇生物合成在疾病发病机制中的关键作用

Genes & Diseases
IF9.4
2026-09-290
OAAI
Munoz-Pujol, Gerard; Huisman, Elise J.; Mesa, Juan-Francisco; Joosten, Marieke; Devos, Annick; Fernandez-Burriel, Miguel; Ugarteburu, Olatz; Segur-Bailach, Eulalia; Gea-Sorli, Sabrina; Moliner, Sonia; Farre-Tarrats, Laia; Guitart-Mampel, Mariona; Arauz-Garofalo, Gianluca; Gay, Marina; Villamor, Neus; Martin, Gemma; Calvo, Maria; Garrabou, Gloria; Macias, Maria J.; Gort, Laura; Garcia-Villoria, Judit; Fillat, Cristina; Tort, Frederic; Ribes, Antonia
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

International Journal of Neonatal Screening
IF4
2026-09-050
OA
José 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
Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources
International Journal of Molecular Sciences
IF4.9
2026-07-280
OA
Edgard Verdura; Aina Montalbán-Casafont; Xavier Solé; Esther Titos; Eva González-Roca; Cristina Sánchez-Cárdenas; Vanessa López; Núria Palau; Paula Sánchez; Alfredo Mendoza-Cantero; Laura Rodriguez-Elena; Dolores Jiménez; Abraham José Paredes-Fuentes; Laura Gort; Laia Rodríguez-Revenga; Irene Madrigal; Yolanda López-Púa; Judit García-Villoria; Celia Badenas; José Luis Villanueva-Cañas; Joan Anton Puig-Butillé
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome

复合体IV缺乏症由COX4I1深部内含子及新生变异引起，导致进行性运动障碍和 Leigh 综合征。

Mitochondrion
IF4.5
2025-11-050
OAAI
Olatz Ugarteburu; Laia Farré-Tarrats; Gerard Muñoz-Pujol; María Unceta; Javier De Las Heras; Ainhoa Garcia-Ribes; Arantza Arza-Ruesga; Belén de la Morena; Gianluca Arauz-Garofalo; Marina Gay; Gloria Garrabou; Javier Corral; Marta Vilaseca; Antonia Ribes; Judit García-Villoria; Laura Gort; Frederic Tort
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
ANNALS OF NEUROLOGY
IF7.7
2024-09-041
OA
Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio
implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns (vol 16, 195, 2021)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-07-132
OAAI
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh综合征是PTCD3缺乏症的主要临床特征

BRAIN PATHOLOGY
IF6.2
2022-11-305
OAAI
Munoz-Pujol, Gerard; Ortigoza-Escobar, Juan D.; Paredes-Fuentes, Abraham J.; Jou, Cristina; Ugarteburu, Olatz; Gort, Laura; Yubero, Delia; Garcia-Cazorla, Angels; O'Callaghan, Mar; Campistol, Jaume; Muchart, Jordi; Yepez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
ANTIOXIDANTS
IF6.6
2022-04-085
OAAI
Bujan, Nuria; Moren, Constanza; Garcia-Garcia, Francesc J.; Blazquez, Alberto; Carnicer, Clara; Belen Cortes, Ana; Gonzalez, Cristina; Lopez-Gallardo, Ester; Lozano, Ester; Moliner, Sonia; Gort, Laura; Tobias, Ester; Delmiro, Aitor; Angel Martin, Miguel; Angel Fernandez-Moreno, Miguel; Ruiz-Pesini, Eduardo; Garcia-Arumi, Elena; Carlos Rodriguez-Aguilera, Juan; Garrabou, Gloria
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-04-3027
OAAI
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

NDUFA8中的双等位基因突变导致两个兄弟姐妹的复合物I缺乏，具有良好的临床进化

MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-11-0110
PREAI
Tort, Frederic; Barredo, Estibaliz; Parthasarathy, Ranjani; Ugarteburu, Olatz; Ferrer-Cortes, Xenia; Garcia-Villoria, Judit; Gort, Laura; Gonzalez-Quintana, Adrian; Martin, Miguel A.; Fernandez-Vizarra, Erika; Zeviani, Massimo; Ribes, Antonia
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
HUMAN MUTATION
IF3.7
2019-05-1720
OAAI
Tort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit; Ferrer-Cortes, Xenia; Arias, Angela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart-Mampel, Mariona; Garrabou, Gloria; Vaz, Frederick M.; Pristoupilova, Ana; Esteban Rodriguez, Maria Isabel; Beltran, Sergi; Cardellach, Francesc; Wanders, Ronald J. A.; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
JOURNAL OF CLINICAL MEDICINE
IF2.9
2019-01-1013
OAAI
Jou, Cristina; Ortigoza-Escobar, Juan D.; Ocallaghan, Maria M.; Nascimento, Andres; Darling, Alejandra; Pias-Peleteiro, Leticia; Perez-Duenas, Belen; Pineda, Mercedes; Codina, Anna; Arjona, Cesar; Armstrong, Judith; Palau, Francesc; Ribes, Antonia; Gort, Laura; Tort, Frederic; Navas, Placido; Ruiz-Pesini, Eduardo; Emperador, Sonia; Lopez-Gallardo, Ester; Bayona-Bafaluy, Pilar; Montero, Raquel; Jimenez-Mallebrera, Cecilia; Garcia-Cazorla, Angels; Montoya, Julio; Yubero, Delia; Artuch, Rafael

研究方向

暂未获取到该数据
A
Antònia Ribes
H 指数:47论文数:262被引数:6,985
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
F
Frederic Tort
H 指数:27论文数:79被引数:7,225
J
Judit García‐Villoria
H 指数:28论文数:112被引数:2,248
O
Olatz Ugarteburu
H 指数:10论文数:17被引数:232
P
Paz Briones
H 指数:38论文数:133被引数:4,023
S
Sonia Pajares
H 指数:8论文数:20被引数:301
G
Glòria Garrabou
H 指数:31论文数:185被引数:3,354
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553
A
Amparo Chabás
H 指数:32论文数:134被引数:2,438