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

Prevalence and determinants of child malnutrition in Bangladesh: a comparative analysis of multilevel modeling

孟加拉国儿童营养不良的患病率和决定因素:多层模型比较分析

Suchana, Afroza Jannat; Noor, Syed Toukir Ahmed; Shah, Md Rafil Tazir; Kabir, Ahmad; Bhuia, Mohammad Romel

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

ANK3功能丧失会导致一种伴有小脑共济失调的隐性神经发育障碍。

Maroofian, Reza; Spoto, Giulia; Moualek, Dalila; Zaki, Maha S; Biswas, Asthik; D'Arco, Felice; Biglari, Sajjad; Nikuei, Pooneh; Gleeson, Joseph G; Tazir, Meriem; Ali Pacha, Lamia; Houlden, Henry

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

NDUFA9 双等位基因变异会导致进行性神经发育障碍,其主要特征是肌张力障碍和线粒体复合物 I 缺乏。

Magrinelli, Francesca; Taylor, Lucie S; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N; Alston, Charlotte L; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P; Taylor, Robert W; Houlden, Henry; Maroofian, Reza

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13

与肌管蛋白相关蛋白2和13突变相关的夏科-马里-图斯病4B型(CMT4B)的疾病进展

Bertini, Alessandro; Reilly, Mary M; Pisciotta, Chiara; Previtali, Stefano C; Parman, Yesim; Battaloglu, Esra; Laurà, Matilde; Blake, Julian; Sacconi, Sabrina; Attarian, Shahram; Stojkovic, Tanya; Bellatache, Mounia; Nouioua, Sonia; Tazir, Meriem; Cakar, Arman; Gambardella, Antonio; Valentino, Paola; Lewis, Richard A; Horvath, Rita; Zambon, Alberto A; Sabatelli, Mario; Luigetti, Marco; Tozza, Stefano; Manganelli, Fiore; Herrmann, David N; Scherer, Steven S; Kressin, Nicole; Ward, Kailee; Bolino, Alessandra; Shy, Michael E; Pareyson, Davide

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries

神经肌肉疾病诊断:七个国家利用全外显子组测序诊断神经发育和神经肌肉疾病

Malfatti, Edoardo; Caramizaru, Alexandru; Lee, Hane; Kim, JiHye; Shoaito, Hussein; Pennisi, Alessandra; Souvannanorath, Sarah; Authier, François-Jérôme; Dumitrescu, Andreea; Fahmy, Nagia; Escobar-Cedillo, Rosa Elena; Miranda-Duarte, Antonio; Luna-Angulo, Alexandra Berenice; Nouioua, Sonia; Benchaabi, Ouissem; Tazir, Meriem; Hallal, Sihem; Martinez, Peggy; Castiglioni, Claudia; Dobrescu, Amelia; Tajsharghi, Homa

Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes

先天性重症肌无力综合征的创新治疗方法

Kediha, Mohamed I; Tazir, Meriem; Sternberg, Damien; Eymard, Bruno; Ali Pacha, Lamia

Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS

EIF2AK2 杂合变异导致青春期起病的全身性肌张力障碍,对 DBS 治疗部分有效。

Magrinelli, Francesca; Moualek, Dalila; Tazir, Meriem; Pacha, Lamia Ali; Verghese, Alice; Bhatia, Kailash P; Maroofian, Reza; Houlden, Henry

Finding the real COVID-19 case-fatality rates for SAARC countries

找出南盟国家新冠肺炎的真实病死率

Shah, Md Rafil Tazir; Ahammed, Tanvir; Anjum, Aniqua; Chowdhury, Anisa Ahmed; Suchana, Afroza Jannat

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

CAPN1变异体在痉挛性共济失调中的作用日益增强,且表型与基因型存在相关性

Méreaux, Jean-Loup; Firanescu, Cristina; Coarelli, Giulia; Kvarnung, Malin; Rodrigues, Rita; Pegoraro, Elena; Tazir, Meriem; Taithe, Frédéric; Valter, Rémi; Huin, Vincent; Lidström, Kristina; Banneau, Guillaume; Morais, Sara; Parodi, Livia; Coutelier, Marie; Papin, Mélanie; Svenningsson, Per; Azulay, Jean-Philippe; Alonso, Isabel; Nilsson, Daniel; Brice, Alexis; Le Guern, Eric; Press, Rayomand; Vazza, Giovanni; Loureiro, José Leal; Goizet, Cyril; Durr, Alexandra; Paucar, Martin; Stevanin, Giovanni

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

一项大型多中心研究中隐性帕金森病的特征分析

Lesage, Suzanne; Lunati, Ariane; Houot, Marion; Romdhan, Sawssan Ben; Clot, Fabienne; Tesson, Christelle; Mangone, Graziella; Toullec, Benjamin Le; Courtin, Thomas; Larcher, Kathy; Benmahdjoub, Mustapha; Arezki, Mohamed; Bouhouche, Ahmed; Anheim, Mathieu; Roze, Emmanuel; Viallet, François; Tison, François; Broussolle, Emmanuel; Emre, Murat; Hanagasi, Hasmet; Bilgic, Basar; Tazir, Meriem; Djebara, Mouna Ben; Gouider, Riadh; Tranchant, Christine; Vidailhet, Marie; Le Guern, Eric; Corti, Olga; Mhiri, Chokri; Lohmann, Ebba; Singleton, Andrew; Corvol, Jean-Christophe; Brice, Alexis