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

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women

RPGRorf15纳米孔长读长测序技术可提高男性和女性视网膜色素变性的分子诊断率

Fabard, Manon; Devos, Aurore; Poncet, Anaïs F; Meneboo, Jean-Pascal; Figeac, Martin; Villenet, Céline; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Meunier, Isabelle; Zanlonghi, Xavier; Grunewald, Olivier; Huin, Vincent; Lecigne, Claire; Smirnov, Vasily; Dhaenens, Claire-Marie

HMGA1 deficiency: a pathogenic link between tau pathology and insulin resistance.

HMGA1 缺乏:tau 病理与胰岛素抵抗之间的致病联系

Mirabelli Maria, Chiefari Eusebio, Arcidiacono Biagio, Salatino Alessandro, Pascarella Angelo, Morelli Maurizio, Credendino Sara C, Brunetti Francesco S, Di Vito Anna, Greco Adelaide, Huin Vincent, Nicoletti Ferdinando, Pierantoni Giovanna M, Fedele Monica, Aguglia Umberto, Foti Daniela P, Brunetti Antonio

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

携带中间等位基因和大量SCA1扩增的患者出现早发性表型:病例报告

Baille, Guillaume; Geoffre, Nicolas; Wissocq, Anna; Planté-Bordeneuve, Pauline; Mutez, Eugénie; Huin, Vincent

Conservative Iron Chelation for Neuroferritinopathy

保守的铁螯合疗法治疗神经铁蛋白病

Marchand, Felix; Moreau, Caroline; Kuchcinski, Gregory; Huin, Vincent; Defebvre, Luc; Devos, David

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

Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor.

tau 病理中 C1q 失调加剧、突触丢失和记忆缺陷与神经元腺苷 A2A 受体相关

Carvalho Kevin, Faivre Emilie, Pietrowski Marie J, Marques Xavier, Gomez-Murcia Victoria, Deleau Aude, Huin Vincent, Hansen Jan N, Kozlov Stanislav, Danis Clément, Temido-Ferreira Mariana, Coelho Joana E, Mériaux Céline, Eddarkaoui Sabiha, Gras Stéphanie Le, Dumoulin Mélanie, Cellai Lucrezia, Landrieu Isabelle, Chern Yijuang, Hamdane Malika, Buée Luc, Boutillier Anne-Laurence, Levi Sabine, Halle Annett, Lopes Luisa V, Blum David

A geographical cluster of progressive supranuclear palsy in northern France

法国北部出现进行性核上性麻痹的地理聚集性病例

Caparros-Lefebvre, Dominique; Golbe, Lawrence I; Deramecourt, Vincent; Maurage, Claude-Alain; Huin, Vincent; Buée-Scherrer, Valerie; Obriot, Helene; Sablonnière, Bernard; Caparros, Francois; Buée, Luc; Lees, Andrew J