日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

由MT-ATP6和MT-ATP8致病变异引起的线粒体ATPase缺乏症患者的自然病程

Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina

Identification of a novel transcript of mouse Sdha

小鼠Sdha基因新转录本的鉴定

Esteban-Amo, María J; Telleria, Amaia; Gobelli, Dino; Serrano-Lorenzo, Pablo; Tellería, Juan J; Pérez-García, María T; Kozlowski, Piotr; de la Fuente, Miguel Á; Simarro, María

Succinate Dehydrogenase and Human Disease: Novel Insights into a Well-Known Enzyme

琥珀酸脱氢酶与人类疾病:对一种众所周知的酶的新见解

Esteban-Amo, María J; Jiménez-Cuadrado, Patricia; Serrano-Lorenzo, Pablo; de la Fuente, Miguel Á; Simarro, María

Clinical and Genetic Analysis of Patients With TK2 Deficiency

TK2 缺乏症患者的临床和基因分析

Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blázquez, Alberto; Quesada-Espinosa, Juan F; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; García-Arumí, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galán-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquín; Carracedo, Angel; Martí, Ramon; Martín, Miguel A; Domínguez-González, Cristina

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

血清GDF-15水平能准确区分以运动不耐受和疲劳为表现的原发性线粒体肌病患者和慢性疲劳综合征患者。

Bermejo-Guerrero, Laura; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Guerrero-Molina, María Paz; Martín-Jiménez, Paloma; Blázquez, Alberto; Serrano-Lorenzo, Pablo; Lora, David; Morales-Conejo, Montserrat; González-Martínez, Irene; López-Jiménez, Elena Ana; Martín, Miguel A; Domínguez-González, Cristina

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

LDHA基因(GSD XI)新突变两例家族的临床、生化和分子特征分析

Serrano-Lorenzo, Pablo; Rabasa, María; Esteban, Jesús; Hidalgo Mayoral, Irene; Domínguez-González, Cristina; Blanco-Echevarría, Agustín; Garrido-Moraga, Rocío; Lucia, Alejandro; Blázquez, Alberto; Rubio, Juan C; Palma-Milla, Carmen; Arenas, Joaquín; Martín, Miguel A

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

25例由TWNK基因突变引起的常染色体显性遗传进行性眼外肌麻痹(ad-PEO)/PEO-Plus患者的临床、组织学和遗传学特征

Bermejo-Guerrero, Laura; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Serrano-Lorenzo, Pablo; Blázquez-Encinar, Alberto; Gutiérrez-Gutiérrez, Gerardo; Martínez-Vicente, Laura; Galán-Dávila, Lucía; García-García, Jorge; Arenas, Joaquín; Muelas, Nuria; Hernández-Laín, Aurelio; Domínguez-González, Cristina; Martín, Miguel A

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.

与 OXPHOS 缺乏和 Leigh 综合征相关的新型 NDUFA13 突变:第二个家族报告

González-Quintana Adrián, García-Consuegra Inés, Belanger-Quintana Amaya, Serrano-Lorenzo Pablo, Lucia Alejandro, Blázquez Alberto, Docampo Jorge, Ugalde Cristina, Morán María, Arenas Joaquín, Martín Miguel A

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

西班牙人群中一种与PGK1缺乏症肌病形式相关的剪接缺陷的新型错义变异

Garcia-Solaesa, Virginia; Serrano-Lorenzo, Pablo; Ramos-Arroyo, Maria Antonia; Blázquez, Alberto; Pagola-Lorz, Inmaculada; Artigas-López, Mercè; Arenas, Joaquín; Martín, Miguel A; Jericó-Pascual, Ivonne

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

西班牙所有McArdle病患者的基因型和表型特征:2016年最新进展

Santalla, Alfredo; Nogales-Gadea, Gisela; Encinar, Alberto Blázquez; Vieitez, Irene; González-Quintana, Adrian; Serrano-Lorenzo, Pablo; Consuegra, Inés García; Asensio, Sara; Ballester-Lopez, Alfonsina; Pintos-Morell, Guillem; Coll-Cantí, Jaume; Pareja-Galeano, Helios; Díez-Bermejo, Jorge; Pérez, Margarita; Andreu, Antoni L; Pinós, Tomàs; Arenas, Joaquín; Martín, Miguel A; Lucia, Alejandro