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E

Elena García-Arumí

Bellvitge University Hospital
H指数:29
被引数:2,731

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荣誉奖项

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213.2: Plasma dynamics of DAMPs and cf-mtDNA in controlled DCD lung transplantation: Association with primary graft dysfunction.

213.2: DAMPs和cf-mtDNA在受控DCD肺移植中的血浆动力学及其与原发性移植物功能障碍的关联。

Transplantation
IF5
2025-12-010
PRE
Sandiumenge, Alberto; Marti, Ramon; Perez-Redondo, Marina; Angeles Ballesteros, Maria; Mosteiro, Fernando; Gomez-Brey, Aroa; Jose Melia, Maria; Garcia Arumi, Elena; Deu, Maria; Crowley, Silvana; Naranjo, Sara; Fieira, Eva; Mora, Victor; Bello, Irene
Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B)

扩展肌肉糖原合成酶缺乏症（GSD0B）的临床表型并了解其生化后果

Molecular Genetics and Metabolism
IF3.5
2025-05-180
PRE
A. Llauradó; T. Pinós; M. Codina-Solà; E. Martínez-Saez; J.L. Restrepo-Vera; M. Salvadó; D. Sanchez-Tejerina; J. Sotoca; P. Muñoz; E. Rovira-Moreno; Leyla Büyükdereli; E. Garcia-Arumi; J.M. Vidal-Taboada; D. Ovelleiro; R. Juntas-Morales
Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation

病例报告: 雄激素/双亲嵌合体与两种双亲细胞系导致胎盘间充质发育异常: 一种可能的新机制

HUMAN REPRODUCTION
IF6.1
2025-03-010
PRE
Xuncla, Mar; Sanchez-Duran, Maria angeles; Rey, Natalia; Serrano, Maria; Martinez, Pedro Antonio; Trobo, Lourdes; Soriano, Jessica Camacho; Plaja, Alberto; Castells-Sarret, Neus; Rigola, Maria angels; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel
Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients

RFC1扩展/画布的频谱障碍: 一组31例患者的临床和电生理特征

CLINICAL NEUROPHYSIOLOGY
IF3.6
2025-02-010
PRE
Lainez, Elena; Sanchez-Tejerina, Daniel; Alvarez, Paula Fernandez; Vinola, Margarida Gratacos-; Seoane, Jose Luis; Santa-Cruz, Daniela Isabel; Verdaguer, Lena; Juntas, Raul; Llaurado, Arnau; Sotoca, Javier; Salvado, Maria; Arumi, Elena Garcia; Raguer, Nuria
Clinical and Genetic Analysis of Patients With TK2 Deficiency
NEUROLOGY-GENETICS
IF3.7
2024-04-014
OAAI
Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blazquez, Alberto; Quesada-Espinosa, Juan F.; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; Garcia-Arumi, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galan-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquin; Carracedo, Angel; Marti, Ramon; Martin, Miguel A.; Dominguez-Gonzalez, Cristina
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit

RFC1重复扩张和小脑共济失调，神经病和前庭反射综合征: 来自神经肌肉疾病单位的经验和观点

JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-03-015
PRE
Sanchez-Tejerina, Daniel; Alvarez, Paula Fernandez; Lainez, Elena; Martinez, Victoria Gonzalez; Santa-Cruz, Daniela Isabel; Verdaguer, Lena; Gratacos, Margarida; Seoane, Jose Luis; Raguer, Nuria; Hernandez-Vara, Jorge; Llaurado, Arnau; Sotoca, Javier; Salvado, Maria; Arumi, Elena Garcia; Tizzano, Eduardo F.; Juntas, Raul
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

使用先证者的单例外显子组测序作为近亲夫妇的孕前携带者筛查方法的经验

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-12-083
PRE
Abuli, Anna; Costa-Roger, Mar; Codina-Sola, Marta; Valenzuela, Irene; Leno-Colorado, Jordi; Rovira-Moreno, Eulalia; Cueto-Gonzalez, Anna; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Cusco, Ivon; Tizzano, Eduardo F.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-11-292
PRE
Codina-Sola, Marta; Trujillano, Laura; Abuli, Anna; Rovira-Moreno, Eulalia; Munoz-Cabello, Patricia; Campos, Berta; Fernandez-alvarez, Paula; Palau, Dolors; Carrasco, Estela; Valenzuela, Irene; Cueto-Gonzalez, Anna Maria.; Lasa-Aranzasti, Amaia; Limeres, Javier; Leno-Colorado, Jordi; Costa-Roger, Mar; Moles-Fernandez, Alejandro; Balmana, Judith; Diez, Orland; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

罕见疾病患者外显子组测序后癌症易感基因的次要和偶然发现的临床和心理意义

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-11-296
PRE
Carrasco, Estela; Lopez-Fernandez, Adria; Codina-Sola, Marta; Valenzuela, Irene; Cueto-Gonzalez, Am; Villacampa, Guillermo; Navarro, Victor; Torres-Esquius, Sara; Palau, Dolors; Cruellas, Mara; Torres, Maite; Perez-Duenas, Belen; Abuli, Anna; Diez, Orland; Sabado-Alvarez, Constantino; Garcia-Arumi, Elena; Tizzano, Eduardo F.; Moreno, Lucas; Balmana, Judith
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

研究方向

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A
Antoni L. Andreu
H 指数:51论文数:239被引数:7,729
E
Eduardo F. Tizzano
H 指数:41论文数:259被引数:9,345
R
Ramón Martí
H 指数:41论文数:202被引数:5,443
M
Miguel A. Martı́n
H 指数:50论文数:325被引数:9,892
P
Paula Fernández‐Álvarez
H 指数:10论文数:48被引数:425
M
Maria Antolı́n
H 指数:32论文数:110被引数:8,910
M
Marta Codina‐Solà
H 指数:13论文数:47被引数:724
I
Irene Valenzuela
H 指数:24论文数:123被引数:1,686
G
Glòria Garrabou
H 指数:31论文数:185被引数:3,358
J
Joan López-Hellín
H 指数:16论文数:58被引数:1,117