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

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

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

尼曼-匹克病C型患者接受持续米格鲁司他治疗后的治疗结果:NPC注册研究的最终报告

Patterson, Marc C; Mengel, Eugen; Vanier, Marie T; Moneuse, Patrick; Rosenberg, Daniel; Pineda, Mercedes

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

尼曼-匹克病C型患者的疾病特征、预后及米格鲁司他治疗对疾病进展的影响:一项国际多中心回顾性病例分析

Pineda, Mercedes; Juríčková, Katarína; Karimzadeh, Parvaneh; Kolnikova, Miriam; Malinova, Vera; Insua, Jose Luis; Velten, Christian; Kolb, Stefan A

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

评估不同怀疑指数在临床实践中识别尼曼-匹克病C型患者的能力:一项回顾性病历回顾的事后分析

Pineda, Mercedes; Juríčková, Katarína; Karimzadeh, Parvaneh; Kolniková, Miriam; Malinová, Věra; Torres, Juan; Kolb, Stefan A

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

一项针对大量经基因诊断确诊为线粒体疾病的儿科患者的研究发现,肌肉受累情况较为严重。

Jou, Cristina; Ortigoza-Escobar, Juan D; O'Callaghan, Maria M; Nascimento, Andres; Darling, Alejandra; Pias-Peleteiro, Leticia; Perez-Dueñas, Belén; Pineda, Mercedes; Codina, Anna; Arjona, César; 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

Rayleigh-Plesset equation of the bubble stable cavitation in water: A nonequilibrium all-atom molecular dynamics simulation study

水中气泡稳定空化的瑞利-普莱塞特方程:非平衡全原子分子动力学模拟研究

Frullanti, Elisa; Papa, Filomena T; Grillo, Elisa; Clarke, Angus; Ben-Zeev, Bruria; Pineda, Mercedes; Bahi-Buisson, Nadia; Bienvenu, Thierry; Armstrong, Judith; Roche Martinez, Ana; Mari, Francesca; Nissenkorn, Andreea; Lo Rizzo, Caterina; Veneselli, Edvige; Russo, Silvia; Vignoli, Aglaia; Pini, Giorgio; Djuric, Milena; Bisgaard, Anne-Marie; Ravn, Kirstine; Bosnjak, Vlatka Mejaski; Hayek, Joussef; Khajuria, Rajni; Montomoli, Barbara; Cogliati, Francesca; Pintaudi, Maria; Hadzsiev, Kinga; Craiu, Dana; Voinova, Victoria; Djukic, Aleksandra; Villard, Laurent; Renieri, Alessandra; Man, Viet Hoang; Li, Mai Suan; Derreumaux, Philippe; Nguyen, Phuong H

CDKL5 variants: Improving our understanding of a rare neurologic disorder

CDKL5 变异:增进我们对一种罕见神经系统疾病的了解

Hector, Ralph D; Kalscheuer, Vera M; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E S; Cobb, Stuart R

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

对导致儿童期发病共济失调和非梗阻性心肌病的 TSFM 突变进行分子遗传学表征和挽救

Emperador Sonia, Bayona-Bafaluy M Pilar, Fernández-Marmiesse Ana, Pineda Mercedes, Felgueroso Blanca, López-Gallardo Ester, Artuch Rafael, Roca Iria, Ruiz-Pesini Eduardo, Couce María Luz, Montoya Julio

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

基于专家共识和现有证据的雷特综合征骨骼健康管理临床指南

Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris; Woodhead, Helen; Fyfe, Sue; Ward, Leanne M; Munns, Craig; Motil, Kathleen; Tarquinio, Daniel; Shapiro, Jay R; Brismar, Torkel; Ben-Zeev, Bruria; Bisgaard, Anne-Marie; Coppola, Giangennaro; Ellaway, Carolyn; Freilinger, Michael; Geerts, Suzanne; Humphreys, Peter; Jones, Mary; Lane, Jane; Larsson, Gunilla; Lotan, Meir; Percy, Alan; Pineda, Mercedes; Skinner, Steven; Syhler, Birgit; Thompson, Sue; Weiss, Batia; Witt Engerström, Ingegerd; Downs, Jenny

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

用于辅助筛查早发性尼曼-匹克病C型(NP-C)的怀疑指数

Pineda, Mercedes; Mengel, Eugen; Jahnová, Helena; Héron, Bénédicte; Imrie, Jackie; Lourenço, Charles M; van der Linden, Vanessa; Karimzadeh, Parvaneh; Valayannopoulos, Vassili; Jesina, Pavel; Torres, Juan V; Kolb, Stefan A