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

Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour

对1型神经纤维瘤病患者进行密切随访可降低恶性周围神经鞘瘤的发生率。

Iasella, Maria Pia; Ruttens, Dries; Hompes, Daphne; Vandecaveye, Vincent; Sciot, Raf; Deroose, Christophe; Douchy, Thomas; Decramer, Thomas; Jacobs, Sandra; Denayer, Ellen; Van Calenbergh, Frank; Legius, Eric; Brems, Hilde

Reply to Taal et al. Comment on "Iasella et al. Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour. Cancers 2025, 17, 1306"

回复 Taal 等人对“Iasella 等人,《密切随访 1 型神经纤维瘤病患者可降低恶性周围神经鞘瘤的发生率》,Cancers 2025, 17, 1306”的评论

Iasella, Maria Pia; Ruttens, Dries; Hompes, Daphne; Vandecaveye, Vincent; Sciot, Raf; Deroose, Christophe; Douchy, Thomas; Decramer, Thomas; Jacobs, Sandra; Denayer, Ellen; Van Calenbergh, Frank; Legius, Eric; Brems, Hilde

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial

拉莫三嗪治疗1型神经纤维瘤病相关认知障碍:一项II期随机安慰剂对照试验

Ottenhoff, Myrthe J; Mous, Sabine E; Castricum, Jesminne; Rietman, André B; Oostenbrink, Rianne; van der Vaart, Thijs; Tulen, Joke H M; Parra, Alba; Ramos, Federico J; Legius, Eric; Moll, Henriette A; Elgersma, Ype; de Wit, Marie-Claire Y

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

由KRT10基因突变(c.467G>A,p.Arg156His)引起的新生儿表皮松解性鱼鳞病:病例报告

Smits, Elke; Naulaers, Gunnar; Bolling, Maria C; Legius, Eric; Colmant, Caroline

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

类似于林奇综合征的体质性错配修复缺陷与次等位基因错配修复基因变异有关

Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration

Legius综合征中Ras调节因子SPRED1的突变会破坏其膜定位,并可能导致神经退行性变。

Yasuko Hirata ,Hilde Brems ,Seppe Van der Auweraer ,Masaki Ohyagi ,Mana Iizuka ,Setsuko Mise-Omata ,Minako Ito ,Ludwine Messiaen ,Seiya Mizuno ,Satoru Takahashi ,Eric Legius ,Akihiko Yoshimura

Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases

针对1型神经纤维瘤病、NF2相关神经鞘瘤病和非NF2相关神经鞘瘤病的平台试验设计:一种潜在的罕见病模型

Dhaenens, Britt A E; Heimann, Günter; Bakker, Annette; Nievo, Marco; Ferner, Rosalie E; Evans, D Gareth; Wolkenstein, Pierre; Leubner, Jonas; Potratz, Cornelia; Carton, Charlotte; Iloeje, Uchenna; Kirk, George; Blakeley, Jaishri O; Plotkin, Scott; Fisher, Michael J; Kim, AeRang; Driever, Pablo Hernáiz; Azizi, Amedeo A; Widemann, Brigitte C; Gross, Andrea; Parke, Tom; Legius, Eric; Oostenbrink, Rianne

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

具有单等位基因或双等位基因ANK3变异的个体的表型和基因型谱

Furia, Francesca; Levy, Amanda M; Theunis, Miel; Bamshad, Michael J; Bartos, Meghan N; Bijlsma, Emilia K; Brancati, Francesco; Cejudo, Lucile; Chong, Jessica X; De Luca, Chiara; Dean, Sarah Joy; Egense, Alena; Goel, Himanshu; Guenzel, Adam J; Hüffmeier, Ulrike; Legius, Eric; Mancini, Grazia M S; Marcos-Alcalde, Iñigo; Niclass, Tanguy; Planes, Marc; Redon, Sylvia; Ros-Pardo, David; Rouault, Karen; Schot, Rachel; Schuhmann, Sarah; Shen, Joseph J; Tao, Alice M; Thiffault, Isabelle; Van Esch, Hilde; Wentzensen, Ingrid M; Barakat, Tahsin Stefan; Møller, Rikke S; Gomez-Puertas, Paulino; Chung, Wendy K; Gardella, Elena; Tümer, Zeynep

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

色素上皮衍生因子驱动神经纤维瘤病咖啡牛奶斑中的黑素细胞增殖和迁移

Charlotte Lovatt, Megan Williams, Alex Gibbs, Abdullahi Mukhtar, Huw J Morgan, Simone Lanfredini, Carlotta Olivero, Gill Spurlock, Sally Davies, Charlotte Philpott, Hannah Tovell, Peter Turnpenny, Dilair Baban, Sam Knight, Hilde Brems, Julian R Sampson, Eric Legius, Meena Upadhyaya, Girish K Patel

SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila

SREBP调节NADP+/NADPH循环以控制果蝇的夜间睡眠

Vittoria Mariano ,Alexandros K Kanellopoulos ,Giuseppe Aiello ,Adrian C Lo ,Eric Legius ,Tilmann Achsel ,Claudia Bagni