Biblio

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Journal Article

Dooves S, Kok LML, Holmes DB, Breeuwsma N, Breur M, Bugiani M, Wolf NI, Heine VM. Cortical interneuron development is affected in 4H leukodystrophy. Brain. 2023.

Mirchi A, Guay S-P, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, et al. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in , and . J Med Genet. 2023.

Schoenmakers DH, Mochel F, Adang LA, Boelens J-J, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, et al. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. Orphanet J Rare Dis. 2024;19(1):46.

Al-Saady ML, Galabova H, Schoenmakers DH, Beerepoot S, Lindemans C, van Hasselt PM, Van der Knaap MS, Wolf NI, Pouwels PJW. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy. J Inherit Metab Dis. 2024.

Wolf NI, Breur M, Plug B, Beerepoot S, Westerveld ASR, van Rappard DF, de Vries SI, Kole MHP, Vanderver A, Van der Knaap MS, et al. Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction. Ann Clin Transl Neurol. 2020.

Beerepoot S, Heijst H, Roos B, Wamelink MMC, Boelens JJan, Lindemans CA, van Hasselt PM, Jacobs EH, Van der Knaap MS, Teunissen CE, et al. Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy. Brain. 2021.

Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, et al. Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024;49:141-154.

Beerepoot S, Boelens JJan, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, Van der Knaap MS, Bugiani M, Wolf NI. Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series. J Neurol. 2024.

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, et al. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics. 2018.