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Clinical Neurology and Neurosurgery|August 22, 2024
Case report: Spontaneous improvement and treatment considerations in leukoencephalopathy with calcifications and cystsShanice Beerepoot, Hilko Ardon, Anneke Niers, et al.
Journal of Applied Gerontology : the Official Journal of the Southern Gerontological Society|March 24, 2022
Enjoyment of Sexuality and Longevity in Late Midlife and Older Adults: The Longitudinal Ageing Study AmsterdamShanice Beerepoot, Suzanne W M Luesken, Martijn Huisman, et al.
Orphanet Journal of Rare Diseases|November 6, 2019
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspectiveShanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, et al.
Molecular Immunology|August 25, 2024
Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell developmentShanice Beerepoot, Nicole I Wolf, Marjo S van der Knaap, et al.
Orphanet Journal of Rare Diseases|April 2, 2025
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1Shanice Beerepoot, Lucas Grinwis, Adeline L Vanderver, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 13, 2022
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic LeukodystrophyShanice Beerepoot, Nicole I Wolf, Katharina Wehner, et al.
Annals of Clinical and Translational Neurology|November 5, 2022
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophyDaphne H Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh-Mann, et al.
Journal of Inherited Metabolic Disease|February 7, 2024
The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophySamuel Groeschel, Shanice Beerepoot, Lucas Bastian Amedick, et al.
American Journal of Medical Genetics. Part A|June 27, 2024
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblingsShanice Beerepoot, Jonathan I M L Verbeke, Maud Plantinga, et al.
Journal of Neurology|April 2, 2024
Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case seriesShanice Beerepoot, Jaap Jan Boelens, Caroline Lindemans, et al.
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