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N

Nicole I. Wolf

emma's children's hospital
H指数:60
被引数:1.1万

个人简介

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教育背景

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工作经历

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荣誉奖项

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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 ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ILLUMINATE自然史研究：集落刺激因子1受体相关的成人起病伴轴突球和色素性神经胶质细胞的白质脑病

Brain Communications
IF4.5
2026-07-140
OA
David S Lynch; Charles Wade; Ludger Schöls; Stefanie N Hayer; Jeffrey M Gelfand; Wolfgang Köhler; Christa-Caroline Bergner; Paulo Victor Sgobbi de Souza; Elizabeth C Finger; Nicole I Wolf; Shanice Beerepoot; Jennifer L Orthmann-Murphy; Tomasz Chmiela; Raj Rajagovindan; Donald G McLaren; Francois Gaudreault; Christian Mirescu; Denitza Raitcheva; Andreas Meier; David Gray; Juan Chavez; Petra Kaufmann; Zbigniew K Wszolek
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

氨酰-tRNA合成酶：变异分类、功能测定及新兴治疗策略

Journal of Inherited Metabolic Disease
IF3.8
2026-04-240
OAAI
M. I. Mendes; D. E. Smith; V. Spek; A. M. Bosch; W. E. Corpeleijn; M. Engelen; S. A. Fuchs; A. Hadchouel; I. U. Heinemann; R. H. Houtkooper; E. M. M. Hoytema van Konijnenburg; S. Kemp; M. Langeveld; C. D. M. Karnebeek; A. Pop; V. M. Siu; N. I. Wolf; G. S. Salomons
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

血清NfL、GFAP和p-tau217在药物难治性癫痫及智力障碍成人中的研究：持续神经损伤的标志

Epilepsia
IF6.6
2026-03-300
OAAI
Hadassa Kwetsie; Inge M. W. Verberk; Jans S. van Ool; Anneke J. J. Rampen; Rebecca Z. Rousset; Nicole I. Wolf; Dederieke A. M. Maes-Festen; Clara D. M. van Karnebeek; Charlotte E. Teunissen; Erik Boot; Agnies M. van Eeghen
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
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
Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Mackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
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.
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
PROTEIN & CELL
IF12.8
2024-11-280
OAAI
Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia
EPILEPSIA
IF6.6
2024-09-300
OAAI
Symonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M.
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
M
Marjo S. van der Knaap
H 指数:98论文数:807被引数:3.4万
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,805
C
Cas Simons
H 指数:45论文数:182被引数:7,456
S
Shanice Beerepoot
H 指数:12论文数:33被引数:516
J
Jaap Jan Boelens
H 指数:69论文数:574被引数:1.6万
Q
Quinten Waisfisz
H 指数:57论文数:228被引数:1.7万
M
Marianna Bugiani
H 指数:53论文数:260被引数:1.5万
R
Raphael Schiffmann
H 指数:90论文数:448被引数:2.4万
D
Davide Tonduti
H 指数:33论文数:168被引数:4,307