Alfonso Oyarzábal

consejo superior de investigaciones cientificas (csic)

H指数:15

被引数:894

个人简介

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教育背景

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工作经历

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荣誉奖项

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Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders

精胺恢复了细胞转运障碍病理生理学基础上的自噬缺陷。

JOURNAL OF INHERITED METABOLIC DISEASE

IF3.8

2025-01-210

OAAI

Biological Basis of Cell Trafficking: A General Overview

细胞迁移的生物学基础：概述

JOURNAL OF INHERITED METABOLIC DISEASE

IF3.8

2025-01-051

L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study

BRAIN

IF11.7

2024-02-214

PRE

Julia-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibanez-Mico, Salvador; Munoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Victor; Garcia-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernandez, Antonio; Alguacil, Elena Gonzalez; Sanchez-Carpintero, Rocio; Martin del Valle, Fernando; Gonzalez, Erika Jimenez; Cabrera, Lourdes Cean; Medina-Rivera, Ines; Perez-Ordonez, Marta; Colome, Roser; Lopez, Laura; Cazorla, Maria Engracia; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Illescas, Katia Sofia; Balsells-Mejia, Sol; Mari-Vico, Rosanna; Vinas, Maria Duffo; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Gjerulfsen, Cathrine Elisabeth; Muro, Valeria L.; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzabal, Alfonso; Santos-Gomez, Ana; Altafaj, Xavier; Garcia-Cazorla, Angeles

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

雷格列酮的线粒体调节可作为Rett综合征的潜在治疗方法

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2023-10-266

OAAI

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-05-169

OAAI

Justel, 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

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

BCKDK缺乏症: 一种可治疗的神经发育疾病，适合新生儿筛查

BRAIN

IF11.7

2023-02-028

PRE

Tangeraas, Trine; Constante, Juliana R.; Backe, Paul Hoff; Oyarzabal, Alfonso; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, Francois G.; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodriguez-Pombo, Pilar; Al-Sannaa, Nouriya; de los Santos, Mariela; Muchart Lopez, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Morkrid, Lars; Garcia-Cazorla, Angeles

Genetic disorders of cellular trafficking

TRENDS IN GENETICS

IF16.3

2022-07-0129

PRE

Energy metabolism in childhood neurodevelopmental disorders

EBIOMEDICINE

IF10.8

2021-07-0140

OAAI

Ndufs4相关Leigh综合征1例报告并文献复习

Mitochondrion