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Wolf, Nicole I.
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1

Leukoencephalopathy with calcifications, developmental brai..:

Beerepoot, Shanice ; Verbeke, Jonathan I. M. L. ; Plantinga, Maud...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

The effect of intrathecal recombinant arylsulfatase A thera..:

Groeschel, Samuel ; Beerepoot, Shanice ; Amedick, Lucas Bastian...
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 778-791 , 2024
Link: https://doi.org/10.1002/..
 
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3

Neurofilament light protein as a biomarker for spinal muscu..:

Bayoumy, Sherif ; Verberk, Inge M.W. ; Vermunt, Lisa...
Clinical Chemistry and Laboratory Medicine (CCLM).  62 (2024)  7 - p. 1252-1265 , 2024
Link: https://doi.org/10.1515/..
 
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4

Adaptive behavior assessed by Vineland‐3 as comprehensive o..:

Schoenmakers, Daphne H. ; van Beelen, Irene ; Voermans, Marije M.C....
Annals of Clinical and Translational Neurology.  11 (2024)  3 - p. 650-661 , 2024
Link: https://doi.org/10.1002/..
 
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5

Riboflavin transporter deficiency in young adults unmasked ..:

Jaeger, Bregje ; Langeveld, Mirjam ; Brunkhorst, Robert...
JIMD Reports.  65 (2024)  4 - p. 233-238 , 2024
Link: https://doi.org/10.1002/..
 
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6

Age-appropriate or delayed myelination? Scoring myelination..:

Harting, Inga ; Garbade, Sven F. ; Roosendaal, Stefan D....
European Journal of Paediatric Neurology.  52 (2024)  - p. 59-66 , 2024
Link: https://doi.org/10.1016/..
 
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7

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A....
European Journal of Paediatric Neurology.  49 (2024)  - p. 141-154 , 2024
Link: https://doi.org/10.1016/..
 
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8

Progressive demyelinating polyneuropathy after hematopoieti..:

Beerepoot, Shanice ; Boelens, Jaap Jan ; Lindemans, Caroline...
Journal of Neurology.  271 (2024)  7 - p. 4028-4038 , 2024
Link: https://doi.org/10.1007/..
 
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9

Longitudinal volumetric analysis of gray matter atrophy in ..:

Al‐Saady, Murtadha L. ; Galabova, Hristina ; Schoenmakers, Daphne H....
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 792-804 , 2024
Link: https://doi.org/10.1002/..
 
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10

Inventory of current practices regarding hematopoietic stem..:

Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A....
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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11

Human post-mortem organotypic brain slice cultures: a tool ..:

Plug, Bonnie C. ; Revers, Ilma M. ; Breur, Marjolein...
Acta Neuropathologica Communications.  12 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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12

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene..:

de Muijnck, Cansu ; Brink, Jacoline B. ten ; de Haan, Hugoline G....
Genes.  15 (2024)  5 - p. 530 , 2024
Link: https://doi.org/10.3390/..
 
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13

In memoriam: Jaap Valk, 1929–2024:

Wolf, Nicole I. ; van der Knaap, Marjo S.
European Journal of Paediatric Neurology.  51 (2024)  - p. 148 , 2024
Link: https://doi.org/10.1016/..
 
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14

Typical and atypical MRI patterns of rare brain disorders: ..:

Wolf, Nicole I. ; Engelen, Marc ; van der Knaap, Marjo S.
Developmental Medicine & Child Neurology.  , 2024
Link: https://doi.org/10.1111/..
 
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15

A second case of glutaminase hyperactivity: Expanding the p..:

Rumping, Lynne ; Pouwels, Petra J. W. ; Wolf, Nicole I....
JIMD Reports.  64 (2023)  3 - p. 217-222 , 2023
Link: https://doi.org/10.1002/..
 
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