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

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis

ERLIN1基因的双等位基因变异:13例痉挛性截瘫患者的研究

Cogan, Guillaume; Zaki, Maha S; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cécile; Gleeson, Joseph G; Howarth, Robyn; Durr, Alexandra; de Sainte Agathe, Jean-Madeleine; Mignot, Cyril

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

米格鲁司他治疗对早期婴儿尼曼-匹克病C型患者神经系统疾病和生存率的影响:一项法国全国性回顾性研究

Freihuber, Cécile; Dahmani-Rabehi, Bahia; Brassier, Anaïs; Broué, Pierre; Cances, Claude; Chabrol, Brigitte; Eyer, Didier; Labarthe, François; Latour, Philippe; Levade, Thierry; Pichard, Samia; Sevin, Caroline; Vanier, Marie T; Héron, Bénédicte

Lessons learned from 40 novel PIGA patients and a review of the literature

从40例新型PIGA患者中汲取的经验教训及文献综述

Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R; Moura de Souza, Carolina Fischinger; Freihuber, Cécile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R; Korff, Christian M; Kragh Hansen, Johanne; Larsen, Martin; Layet, Valérie; Lesca, Gaetan; McBride, Kim L; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H; Skinner, Steven; Szczałuba, Krzysztoł; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A; Lal, Dennis; Gardella, Elena; Bomme Ousager, Lilian; Brünger, Tobias; Helbig, Ingo; Krawitz, Peter; Møller, Rikke S