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

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature

生物素酶缺乏症:一例突尼斯病例报告,其临床表现类似视神经脊髓炎,并进行文献综述

Zioudi, Abir; Benrhouma, Hanene; Jamoussi, Maha; Ben Younes, Thouraya; Miladi, Zouhour; Klaa, Hedia; Nagi, Sonia; Tabarki, Brahim; Ben Youssef Turki, Ilhem; Kraoua, Ichraf

Safety and effectiveness of vagus nerve stimulation in patients with drug-resistant epilepsy: a single center experience

迷走神经刺激治疗药物难治性癫痫患者的安全性和有效性:单中心经验

Alwazna, Ebtehal; Abdullah, Jamal; Alsini, Hanin; Alshahrani, Marahib; Aldhafeeri, Wafa; Al-Attas, Alawi; Alshaikh, Abeer; Alanazi, Mashael; Alsahli, Hamoud; Alshahrani, Mohammed; Alshafi, Shatha; Tabarki, Brahim; Nazer, Abdulrahman; Khan, Sonia

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly

多重近亲结婚家族研究揭示CLASP1可能是无脑回畸形的候选基因

Alsafh, Rawan; Alhashem, Amal; Elsyed, Aly; Yüksel, Zafer; Graiess-Tlili, Kalthoum; Hundallah, Khalid; Thabet, Farah; Tabarki, Brahim

Zinc Tetrafluoroborate-Mediated Ring Expansion of trans-Aziridine-2-carboxylates to cis-2-Iminothiazolidines and cis-Thiazolidine-2-iminium Tetrafluoroborates and Evaluation of Antimicrobial Activity

四氟硼酸锌介导的反式氮丙啶-2-羧酸酯环扩展生成顺式-2-亚氨基噻唑烷和顺式噻唑烷-2-亚胺四氟硼酸盐及其抗菌活性评价

Ben Maamer, Chayma; Dridi, Rihab; Lahmar, Malek; Tabarki, Mohamed Ali; Jobran, Mariem; Sahtel, Sami; Zid, Mohamed Faouzi; Ouzari, Hadda Imene; Vrancken, Emmanuel; Besbes, Rafâa

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

CLEC16A 与逆转录酶和 TRIM27 相互作用,其缺失会损害内体运输和神经发育

Daphne J Smits #, Jordy Dekker #, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

中东国家芳香族L-氨基酸脱羧酶缺乏症:病例系列及文献综述

Abukhaled, Musaad; Al Muqbil, Mohammed; Alghamdi, Malak Ali; Hundallah, Khalid; Suleiman, Jehan; Ben-Omran, Tawfeg; Alfadhel, Majid; Almannai, Mohammed; Alsaleh, Rehab; Tabarki, Brahim

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

更正:中东国家芳香族L-氨基酸脱羧酶缺乏症:病例系列及文献综述

Abukhaled, Musaad; Al Muqbil, Mohammed; Alghamdi, Malak Ali; Hundallah, Khalid; Suleiman, Jehan; Ben-Omran, Tawfeg; Alfadhel, Majid; Almannai, Mohammed; Alsaleh, Rehab; Tabarki, Brahim

Acute Flaccid Myelitis in a Pediatric Patient With Coronavirus Disease 2019

一名患有2019冠状病毒病的儿童患者出现急性弛缓性脊髓炎

Thabet, Farah; Daya, Abir; Zayani, Seifeddine; Chouchane, Chokri; Tabarki, Brahim; Chouchane, Slaheddine