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

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis

北非生物样本库中遗传性疾病致病基因的鉴定:对基因诊断的启示

Charif, Majida; Lhousni, Saida; Ghanam, Ayad; Rkain, Maria; Benajiba, Noufissa; Amrani, Rim; Babakhouya, Abdeladim; Messaoudi, Sahar; Elouali, Aziza; Ayyad, Anass; Najib, Abdeljaouad; El Mahi, Omar; Benzirar, Adnane; Moutaouekkil, Mehdi; Allaoui, Sanae; Benahmed, Mohammed; Elidrissi Errahhali, Manal; Elidrissi Errahhali, Mounia; Bouzidi, Aymane; Ouarzane, Meryem; Vincent, Antony T; Sellam, Adnane; Lenaers, Guy; Boulouiz, Redouane; Bellaoui, Mohammed

Molecular Engineering of Interlayer Exciton Delocalization in 2D Perovskites

二维钙钛矿层间激子离域的分子工程

Boeije, Yorrick; Lie, Fabian; Dubajić, Miloš; Garip, Ediz; Maufort, Arthur; Biega, Raisa-Iona; Lenaers, Stijn; Sauty, Mylène; Ghosh, Pratyush; Radić, Aleksandar; Loher, Amélie; La Magna, Paola; Salway, Hayden; Ashoka, Arjun; Chua, Xian Wei; Gu, Qichun; Van Hecke, Kristof; Lutsen, Laurence; Vanderzande, Dirk; Rao, Akshay; Van Gompel, Wouter T M; Leppert, Linn; Stranks, Samuel D

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

TM2D3基因的双等位基因变异会导致严重的综合征性神经发育障碍,该障碍与内质网和线粒体异常有关。

Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Vahidi Mehrjardi, Mohammad Yahya; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W; Maroofian, Reza

Neurotoxins Acting on TRPV1-Building a Molecular Template for the Study of Pain and Thermal Dysfunctions

作用于TRPV1的神经毒素——构建疼痛和热功能障碍研究的分子模板

Beignon, Florian; Notais, Margaux; Diochot, Sylvie; Baron, Anne; Fajloun, Ziad; Tricoire-Leignel, Hélène; Lenaers, Guy; Mattei, César

G-quadruplex ligand RHPS4 compromises cellular radioresistance by inhibiting the mitochondrial adaptive response induced by ionizing irradiation

G-四链体配体RHPS4通过抑制电离辐射诱导的线粒体适应性反应来削弱细胞的放射抗性。

Tricot, Sabine; Siberchicot, Capucine; Bontemps, Isaline; Desmaze, Chantal; Kratassiouk, Gueorgui; Vandamme, Marie; Pinna, Guillaume; Nemazanyy, Ivan; Radicella, J Pablo; Lenaers, Guy; Renaudin, Xavier; Lebeau, Jérome; Campalans, Anna

Altered endothelial mitochondrial Opa1-related fusion in mouse accelerates age-associated vascular and kidney damage.

小鼠内皮细胞线粒体 Opa1 相关融合的改变会加速与年龄相关的血管和肾脏损伤

Turnaturi Carlotta, L'Hoste Loïck, Proux Coralyne, Grimaud Linda, Vessieres Emilie, Zorzano Antonio, Teissier Anne, Reynier Pascal, Sorrentino Raffaella, Lenaers Guy, Loufrani Laurent, Henrion Daniel

Glycogenesis and glyconeogenesis from glutamine, lactate and glycerol support human macrophage functions

谷氨酰胺、乳酸和甘油的糖原生成和糖异生支持人类巨噬细胞功能

Najia Jeroundi #, Charlotte Roy #, Laetitia Basset, Pascale Pignon, Laurence Preisser, Simon Blanchard, Cinzia Bocca, Cyril Abadie, Julie Lalande, Naïg Gueguen, Guillaume Mabilleau, Guy Lenaers, Aurélie Moreau, Marie-Christine Copin, Guillaume Tcherkez, Yves Delneste, Dominique Couez, Pascale Jeanni