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

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research

脑部磁共振成像在脑性肾上腺脑白质营养不良中的应用:筛查、监测和研究的国际建议

Yska, Hemmo A F; Golse, Marianne; Galanaud, Damien; Amartino, Hernan M; Bergner, Caroline; Bruschi, Fabio; Eichler, Florian S; Fatemi, Ali; García-Cazorla, Àngeles; Gomez-Chiari, Marta; Köhler, Wolfgang; Loes, Daniel; Lund, Troy; Mallack, Eric J; Moscatelli, Marco; Musolino, Patricia L; Nascene, David R; Orthmann-Murphy, Jennifer L; Parazzini, Cecilia; Pouwels, Petra J W; Ribeiro-Constante, Juliana; Roosendaal, Stefan D; Salsano, Ettore; Sgobbi, Paulo V; Sevin, Caroline; Smith Fine, Amena; Tonduti, Davide; Van Haren, Keith; Zerem, Ayelet; Engelen, Marc; Mochel, Fanny

Connections between physics and metabolism in brain functions

脑功能中物理学与新陈代谢之间的联系

Mochel, Fanny; de Oyarzábal Sanz, Alfonso; Pías Peleteiro, Leticia; Ribeiro-Constante, Juliana; Bassereau, Patricia; Chalut, Kevin; Cognet, Laurent; Cronin, Leroy; Hameroff, Stuart; López-Murcia, Francisco J; Pillai, Eva K; Sales-Pardo, Marta; Straube, Anne; Hallou, Adrien; Garcia-Cazorla, Angeles

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions

异染性脑白质营养不良:新的治疗进展和新兴研究方向

Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I

The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia

脊髓小脑性共济失调2型的萎缩模式和阶段:基于ENIGMA-Ataxia的体积测量

Robertson, Jason W; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Coutinho, Léo; Deistung, Andreas; Diciotti, Stefano; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Onyike, Chiadi U; Prince, Jerry L; Reetz, Kathrin; Romanzetti, Sandro; Saccà, Francesco; Synofzik, Matthis; Teive, Hélio A Ghizoni; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; Ying, Sarah H; Harding, Ian H; Hernandez-Castillo, Carlos R

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder

在国际队列中,造血干细胞移植治疗集落刺激因子-1受体(CSF1R)相关疾病

Yska, Hemmo A F; Golse, Marianne; Beerepoot, Shanice; Hayer, Stefanie; Bergner, Caroline; de Paiva, Anderson Rodrigues Brandao; Marelli, Cecilia; Palacios, Natalia Julia; Osorio, Yudy Llamas; Huiban, Camille; Franke, Georg; Wortmann, Friederike; Holtick, Udo; Ayrignac, Xavier; van der Knaap, Marjo S; Schöls, Ludger; Perlbarg, Vincent; Galanaud, Damien; de Witte, Moniek A; Wolf, Nicole I; Nguyen, Stéphanie; Mochel, Fanny

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency

别嘌醇治疗可改善腺苷酸琥珀酸裂解酶缺乏症年轻患者的认知能力、适应性行为和生化指标

Rousselot-Pailley, Bérangère; Semeraro, Michaela; Marquant, Fabienne; Robel, Laurence; Gitiaux, Cyril; Kaminska, Anna; Mochel, Fanny; Bakouboula, Prissile; Elie, Caroline; Hennequin, Carole; Ceballos-Picot, Irène; Sanquer, Sylvia; de Lonlay, Pascale

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

生命筛查:成人代谢专家对新生儿遗传代谢病筛查的看法

Langeveld, Mirjam; Sirrs, Sandra; Schoenmakers, Daphne H; Fazio, Timothy; van der Klauw, Melanie M; Maillot, Francois; Sharma, Reena; Tran, Christel; Ziagaki, Athanasia; Mochel, Fanny

Roma mothers of infant children in the health system - a qualitative study

罗姆族母亲在医疗保健系统中的婴幼儿——一项定性研究

Fransson, Jennifer; Bachelin, Corinne; Ichou, Farid; Guillot-Noël, Léna; Ponnaiah, Maharajah; Gloaguen, Arnaud; Maillart, Elisabeth; Stankoff, Bruno; Tenenhaus, Arthur; Fontaine, Bertrand; Mochel, Fanny; Louapre, Celine; Zujovic, Violetta; Mihailova, N; Dokova, K; Feschieva, N

Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

脊髓小脑性共济失调中基因型特异性脊髓损伤:一项ENIGMA-Ataxia研究

Rezende, Thiago Junqueira Ribeiro; Adanyaguh, Isaac; Barsottini, Orlando G P; Bender, Benjamin; Cendes, Fernando; Coutinho, Leo; Deistung, Andreas; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Hernandez-Castillo, Carlos R; Lenglet, Christophe; Mariotti, Caterina; Martinez, Alberto R M; Massuyama, Breno K; Mochel, Fanny; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Öz, Gülin; Pedroso, José Luiz; Reetz, Kathrin; Synofzik, Matthis; Teive, Helio; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; van de Warrenburg, Bart P C; van Gaalen, Judith; França, Marcondes C Jr; Harding, Ian H