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

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

艾司洛莫尔-铜疗法改善了两名患有门克斯病的儿童的神经发育。

Godoy-Molina, Elena; Serrano, Natalia L; Jiménez-González, Aquilina; Villaronga, Miquel; Marqués Pérez-Bryan, Rosa M; Varela-Fernández, Rubén; Lotz-Esquivel, Stephanie; Hevia Tuñón, Alba; Trivedi, Prachi P; Horn, Nina; Standing, Joseph F; Mangas-Sanjuan, Víctor; Capdevila, Mercè; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldán, Mònica; Arango-Sancho, Pedro; Saez-Villafañe, Mónica; Ortiz-de-Urbina, Juan J; Pieras-López, Angela; Duero, Marta; Farré, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C; Petris, Michael J; Gohil, Vishal M; Palau, Francesc

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter

人类Asc1/CD98hc氨基酸转运蛋白的结构和运输机制

Josep Rullo-Tubau #, Maria Martinez-Molledo #, Paola Bartoccioni, Ignasi Puch-Giner, Ángela Arias, Suwipa Saen-Oon, Camille Stephan-Otto Attolini, Rafael Artuch, Lucía Díaz, Víctor Guallar, Ekaitz Errasti-Murugarren, Manuel Palacín, Oscar Llorca

Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment

GEMIN5基因突变与辅酶Q10缺乏症相关:治疗后的长期随访

Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

涉及谷氨酸能神经传递的神经遗传疾病的代谢特征

Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria, Uliana Musokhranova, Natalia Juliá-Palacios, Juliana Ribeiro-Constante, Xavier Altafaj, Mireia Olivella, Mar O'Callaghan, Alejandra Darling, Judith Armstrong, Rafael Artuch, Àngels García-Cazorla, Alfonso Oyarzábal

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

在一个大型的莱伯遗传性视神经病变家系中鉴定和表征一种新的致病突变

Emperador, Sonia; Habbane, Mouna; López-Gallardo, Ester; Del Rio, Alejandro; Llobet, Laura; Mateo, Javier; Sanz-López, Ana María; Fernández-García, María José; Sánchez-Tocino, Hortensia; Benbunan-Ferreiro, Sol; Calabuig-Goena, María; Narvaez-Palazón, Carlos; Fernández-Vega, Beatriz; González-Iglesias, Hector; Urreizti, Roser; Artuch, Rafael; Pacheu-Grau, David; Bayona-Bafaluy, Pilar; Montoya, Julio; Ruiz-Pesini, Eduardo

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

探讨儿童血脂异常患者的血浆辅酶 Q10 状态

Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch

Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine

rbfox1 突变斑马鱼脑血清素减少,SSRI 氟西汀可部分逆转行为改变

Maja R Adel, Ester Antón-Galindo, Edurne Gago-Garcia, Angela Arias-Dimas, Concepció Arenas, Rafael Artuch, Bru Cormand, Noèlia Fernàndez-Castillo

The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9(-/-) mouse model of cystinuria

抗氧化剂L-麦角硫因可预防胱氨酸尿症Slc7a9(-/-)小鼠模型中的胱氨酸结石。

Mayayo-Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino Guarch, Meritxell; Vilches, Clara; Muñoz, Lourdes; Asensi, Miguel A; Serra, Carmen; Llebaria, Amadeu; Casado, Mercedes; Artuch, Rafael; Garrabou, Gloria; Garcia-Roves, Pablo M; Pallardó, Federico V; Nunes, Virginia

Unravelling inclusion body myositis using a patient-derived fibroblast model

使用患者来源的成纤维细胞模型揭示包涵体肌炎

Judith Cantó-Santos, Laura Valls-Roca, Ester Tobías, Francesc Josep García-García, Mariona Guitart-Mampel, Anna Esteve-Codina, Beatriz Martín-Mur, Mercedes Casado, Rafael Artuch, Estel Solsona-Vilarrasa, José Carlos Fernandez-Checa, Carmen García-Ruiz, Carles Rentero, Carlos Enrich, Pedro J Moreno-L