logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
M

Marjo S. van der Knaap

Emma Children's Hospital
H指数:98
被引数:3.3万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy

异基因造血干细胞移植在迟发性异染性脑白质营养不良中的应用

Brain
IF11.7
2026-09-210
PRE
Daphne H Schoenmakers; Mareen R Datema; Shanice Beerepoot; Marije A B C Asbreuk; Caroline G Bergner; Carolin Awißus; Annette Bley; Helen Sigel; Janna Bredow; Valeria Calbi; Francesca Fumagalli; Emilia Inverso; Erik A Eklund; Sabine W Grønborg; Wietske H M Grol; Cecilie Videbæk; Christiane Kehrer; Marjo S van der Knaap; Nick Schnermann; Hendrik Rosewich; Peter Lang; Peter M van Hasselt; Caroline A Lindemans; Moniek de Witte; Mirjam Langeveld; Ludger Schöls; Jaap Jan Boelens; Päivi Vieira; Johanna Uusimaa; Fanny Mochel; Caroline Sevin; Carla E M Hollak; Samuel Groeschel; Nicole I Wolf
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study

POLR3相关脑白质营养不良对未受影响的家庭成员的影响：一项定性研究

Pediatric Neurology
IF2.1
2025-12-160
OAAI
Adam Le; Kelly-Ann Thibault; Pouneh Amir Yazdani; Alexandra Chapleau; Romy J. van Voorst; Enrico Bertini; Francesco Nicita; Daniela Pohl; Sunita Venkateswaran; Stephanie Keller; Deborah Renaud; Dolores Gonzalez Moron; Marcelo Kauffman; Danilo De Assis Pereira; Adeline Vanderver; Marjo S. van der Knaap; Maxime Morsa; Geneviève Bernard
Endogenous Repair in Vanishing White Matter

范氏白质溶解症的内源性修复

Annals of Neurology
IF7.7
2025-10-270
OAAI
Bonnie C. Plug MSc; Jodie H.K. Man MSc; Marjolein Breur BSc; Erik Nutma PhD; Menno D. Stellingwerff MD; Truus E.M. Abbink PhD; Marianna Bugiani MD, PhD; Marjo S. van der Knaap MD, PhD.
Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective

儿童期发病的TUBB4A相关白质脑病的核心功能域：临床与照护者视角

Pediatric Neurology
IF2.1
2025-10-030
PRE
Francesco Gavazzi; Virali Patel; Jacqueline A. Erler; Brittany Charsar; Ylenia Vaia; Anjana Sevagamoorthy; Ariel Vincent; Sarah Woidill; Evangeline Wassmer; Henry Houlden; Angeles Garcia- Cazorla; Davide Tonduti; Nicole I. Wolf; Marjo Van der Knaap; Geneviève Bernard; Laura A. Adang; Adeline Vanderver
Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter

细胞特异性Eif2b5基因突变小鼠：关于少突胶质细胞在髓鞘消失病变中作用的新见解

BRAIN
IF11.7
2025-10-011
PRE
Trinanes-Ramos, Javier; Bugiani, Marianna; van Rooijen-van Leeuwen, Gemma M.; Chevalier, Juliette A.; Siu, Yuan Jiew; van Utenhove, Elise L. H.; Hoogterp, Leoni; Witkamp, Diede; Oudejans, Ellen; Lodder, Bastiaan; Kole, Maarten H. P.; Saher, Gesine; Nave, Klaus-Armin; Abbink, Truus E. M.; van der Knaap, Marjo S.
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关

Journal of Inherited Metabolic Disease
IF3.8
2025-08-020
OA
Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-03-010
PRE
Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases
NEUROLOGY
IF8.5
2024-09-241
OAAI
Schoenmakers, Daphne H.; van den Berg, Sibren; Timmers, Lonneke; Adang, Laura A.; Baumer, Tobias; Bosch, Annet; van de Casteele, Marc; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariette H. E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Hoglinger, Gunter U.; van den Hout, Hannerieke; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas; van der Knaap, Marjo S.; Papadopoulou, Andri; Plueschke, Kelly; van Rijn, Sanne; Rosenberg, Noa; Saunier-Vivar, Elise F.; Vieira, Bruna dos Santos; Hollak, Carla E. M.; Goettsch, Wim G.; Wolf, Nicole I.

研究方向

暂未获取到该数据
N
Nicole I. Wolf
H 指数:60论文数:714被引数:1.1万
M
Marianna Bugiani
H 指数:53论文数:260被引数:1.5万
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
T
Truus E. M. Abbink
H 指数:33论文数:87被引数:3,736
G
Gert C. Scheper
H 指数:44论文数:118被引数:9,677
R
Raphael Schiffmann
H 指数:90论文数:448被引数:2.4万
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,731
C
Cas Simons
H 指数:45论文数:182被引数:7,368
M
Marjolein Breur
H 指数:26论文数:86被引数:3,007
G
Gajja S. Salomons
H 指数:59论文数:315被引数:1.1万