E-LIB Suche - Ergebnisse für: Wolf, Nicole I.

1

The effect of intrathecal recombinant arylsulfatase A thera..:

Groeschel, Samuel ; Beerepoot, Shanice ; Amedick, Lucas Bastian...
Journal of Inherited Metabolic Disease. , 2024

2

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/..

3

Longitudinal volumetric analysis of gray matter atrophy in ..:

Al‐Saady, Murtadha L. ; Galabova, Hristina ; Schoenmakers, Daphne H....
Journal of Inherited Metabolic Disease. , 2024

Link: https://doi.org/10.1002/..

4

Progressive demyelinating polyneuropathy after hematopoieti..:

Beerepoot, Shanice ; Boelens, Jaap Jan ; Lindemans, Caroline...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Basal nuclei are not involved in early metachromatic leukod..:

Beerepoot, Shanice ; Schoenmakers, Daphne H. ; van der Knaap, Marjo S..
Clinical Neurology and Neurosurgery. 228 (2023) - p. 107696 , 2023

Link: https://doi.org/10.1016/..

13

A homozygous POLR1A variant causes leukodystrophy and affec..:

Misceo, Doriana ; Lirussi, Lisa ; Strømme, Petter...
Brain. 146 (2023) 8 - p. 3513-3527 , 2023

Link: https://doi.org/10.1093/..

14

Child-to-adult transition: a survey of current practices wi..:

Nanetti, Lorenzo ; Kearney, Mary ; Boesch, Sylvia...
Neurological Sciences. , 2023

Link: https://doi.org/10.1007/..

15

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon-Pierre ; Tran, Luan T...
Journal of Medical Genetics. 60 (2023) 10 - p. 1026-1034 , 2023

Link: https://doi.org/10.1136/..