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

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

扩大遗传性痉挛性截瘫的范围:脑瘫模拟中的双等位基因 SPAST 变异。

Nolasco Gregorio A, Roldán Mònica, Jamshidi Yalda, Georvasilis Ioannis, Rodríguez Rocío Jadraque, Boostani Reza, Shoeibi Ali, Armengol Lluís, Codina Anna, Karimiani Ehsan Ghayoor, Hernando-Davalillo Cristina, Martorell Loreto, Ramírez Almaraz María Luisa, Muchart Jordi, Ortez Carlos, Nascimento Andrés, Urreizti Roser, Natera-de Benito Daniel, Serrano Mercedes

Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age

异烟肼混悬液在西班牙6岁以下儿童中的药代动力学分析

Noguera-Julian, Antoni; Wilhelmi, Emma; Cussó, Maria; Aarnoutse, Rob; Colbers, Angela; Martorell, Loreto; López-Ramos, Maria Goretti; Vinent, Joan; Farré, Rosa; Soy, Dolors; Simó-Nebot, Sílvia; Fortuny, Clàudia

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result

连接蛋白30 (GJB6) 缺失是汗液检测假阳性结果的原因

Rossell, Anna; Soler-Garcia, Aleix; Martorell, Loreto; Claveria, Maria Antònia; Valero, Laura; Rodríguez, Sílvia; Badenas, Cèlia; Cols-Roig, Maria

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

提高诊断精准度:表型驱动分析揭示RYR1先天性肌病患者的母系嵌合现象

Estévez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmüller, Hanns; Töpf, Ana; Nascimento, Andrés; Natera-de Benito, Daniel

Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features

非典型莫瓦特-威尔逊综合征:肌张力障碍、舞蹈手足徐动症和认知特征

Nou-Fontanet, Laia; Martí-Sánchez, Laura; Martorell, Loreto; Casas, Jesús; Ortigoza-Escobar, Juan Darío

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

增进对囊泡相关膜蛋白1相关先天性肌无力综合征的理解:表型见解、对3,4-二氨基吡啶的良好反应以及5例新病例的临床特征

Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu

Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age

抗结核药物异烟肼每日10毫克/公斤剂量对6个月以下婴儿的疗效

López-Ramos, Maria Goretti; Vinent, Joan; Aarnoutse, Rob; Colbers, Angela; Velasco-Arnaiz, Eneritz; Martorell, Loreto; Falcón-Neyra, Lola; Neth, Olaf; Prieto, Luis; Guillén, Sara; Baquero-Artigao, Fernando; Méndez-Echevarría, Ana; Gómez-Pastrana, David; Jiménez, Ana Belén; Lahoz, Rebeca; Ramos-Amador, José Tomás; Soriano-Arandes, Antoni; Santiago, Begoña; Farré, Rosa; Fortuny, Clàudia; Soy, Dolors; Noguera-Julian, Antoni

Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome

一名患有Silver-Russell综合征的11岁男孩出现动作诱发性肌阵挛

Nou-Fontanet, Laia; García-Navas, Deyanira; Gómez-Martín, Hilario; Martorell, Loreto; Ortigoza-Escobar, Juan Darío

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

交界型大疱性表皮松解症、常染色体隐性遗传性耳聋57型和安格曼综合征共存:病例报告

Amato, Maria Eugenia; Ricart, Silvia; Vicente, Maria Asunción; Martorell, Loreto; Armstrong, Judith; Fernández Isern, Guerau; Mascaro, José Manuel; Balsells, Sol; Alonso, Itziar; Serrano, Mercedes; Ortigoza-Escobar, Juan Darío