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

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H

NRG1-ERBB2/3 信号失衡是导致 Charcot-Marie-Tooth 病髓鞘形成改变的原因 4H

Lara El-Bazzal, Adeline Ghata, Clothilde Estève, Jihane Gadacha, Patrice Quintana, Christel Castro, Nathalie Roeckel-Trévisiol, Frédérique Lembo, Nicolas Lenfant, André Mégarbané, Jean-Paul Borg, Nicolas Lévy, Marc Bartoli, Yannick Poitelon, Pierre L Roubertoux, Valérie Delague, Nathalie Bernard-Mar

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

BRAT1相关疾病:97例患者的表型谱和表型-基因型相关性

Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

莫雷诺-西村-施密特过度生长综合征病例报告:一种临床特征明确但病因不明的疾病!

Mehawej, Cybel; Chouery, Eliane; Al Hage Chehade, Ghada; Bejaoui, Yosra; Mahfoud, Daniel; Gerges, Maya; Delague, Valérie; El Hajj, Nady; Megarbane, Andre

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

VRK1 突变导致 hiPSC 衍生运动神经元动作电位波形改变,轴突起始节段变短

Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

黎巴嫩20年临床和遗传神经肌肉队列分析:一项国际合作

Megarbane, Andre; Bizzari, Sami; Deepthi, Asha; Sabbagh, Sandra; Mansour, Hicham; Chouery, Eliane; Hmaimess, Ghassan; Jabbour, Rosette; Mehawej, Cybel; Alame, Saada; Hani, Abeer; Hasbini, Dana; Ghanem, Ismat; Koussa, Salam; Al-Ali, Mahmoud Taleb; Obeid, Marc; Talea, Diana Bou; Lefranc, Gerard; Lévy, Nicolas; Leturcq, France; El Hayek, Stephany; Delague, Valérie; Urtizberea, J Andoni

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

HINT1神经病变:扩展基因型和表型谱

Morel, Victor; Campana-Salort, Emmanuelle; Boyer, Amandine; Esselin, Florence; Walther-Louvier, Ulrike; Querin, Giorgia; Latour, Philippe; Lia, Anne-Sophie; Magdelaine, Corinne; Beze-Beyrie, Pierre; Behin, Anthony; Delague, Valérie; Levy, Nicolas; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases

STIM1 的一个新双等位基因功能丧失突变扩大了 STIM1 相关疾病的表型

Alexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, Jon Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, Nicolas Lévy, André Megarbané, Valérie Delague, Marc Bartoli

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

病例报告:在两名突尼斯非典型着色性干皮病患者中鉴定出ERCC4和DDB2基因的新变异

Nabouli, Imen; Chikhaoui, Asma; Othman, Houcemeddine; Elouej, Sahar; Jones, Meriem; Lagarde, Arnaud; Rekaya, Meriem Ben; Messaoud, Olfa; Zghal, Mohamed; Delague, Valerie; Levy, Nicolas; De Sandre-Giovannoli, Annachiara; Abdelhak, Sonia; Yacoub-Youssef, Houda

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

关于第四例报道的哈马米综合征家族的临床和分子生物学最新进展

Mégarbané, André; Hana, Sayeeda; Mégarbané, Hala; Castro, Christel; Baulande, Sylvain; Criqui, Audrey; Roëckel-Trevisiol, Nathalie; Dagher, Christel; Al-Ali, Mahmoud Taleb; Desvignes, Jean-Pierre; Mahfoud, Daniel; El-Hayek, Stephany; Delague, Valérie

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

VRK1 新突变患者的运动神经元中卡哈尔体丢失

Lara El-Bazzal, Khalil Rihan, Nathalie Bernard-Marissal, Christel Castro, Eliane Chouery-Khoury, Jean-Pierre Desvignes, Alexandre Atkinson, Karine Bertaux, Salam Koussa, Nicolas Lévy, Marc Bartoli, André Mégarbané, Rosette Jabbour, Valérie Delague