Nicole I. Wolf
VU University Amsterdam
PathologyGeneticsDiabetes mellitusMedicineBiology
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Publications 216
#1Daan M. Panneman (Boston Children's Hospital)
#2Saskia B. WortmannH-Index: 22
Last. Werner J.H. KoopmanH-Index: 37
view all 16 authors...
#1Nicole I. Wolf (VU: VU University Amsterdam)H-Index: 39
#2Marjolein Breur (VU: VU University Amsterdam)H-Index: 6
Last. Marjo S. van der Knaap (VU: VU University Amsterdam)H-Index: 70
view all 16 authors...
OBJECTIVE: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration. This is the first study to define the effects and therapeutic mechanisms of hematopoietic stem cell transplantation on brain tissue of transplanted metachromatic leukodystrophy patients. METHODS: Autopsy brain tissue was obtained from eight (two t...
#1Inga Harting (University Hospital Heidelberg)H-Index: 12
#2Murtadha Al-Saady (Boston Children's Hospital)
Last. Nicole I. Wolf (Boston Children's Hospital)H-Index: 39
view all 17 authors...
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported. Genetic, clinical findings and 18 MRI scans from n...
#1Guy Helman (UQ: University of Queensland)H-Index: 11
#2Bryan R. Lajoie (Illumina)H-Index: 4
Last. Adeline Vanderver (UPenn: University of Pennsylvania)H-Index: 9
view all 30 authors...
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis in the context of novel disease-associated genes and improved variant curation and annotation resolved 64% of cases. The remaining diagnoses were directly attributable to genome sequencing, including cases...
#1Marisa I. Mendes (VU: VU University Amsterdam)H-Index: 2
#2Lydia GreenH-Index: 1
Last. Nicole I. Wolf (VU: VU University Amsterdam)H-Index: 39
view all 32 authors...
Objective: Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease, and to identify possible genotype-phenotype relationships. Methods: We performed a multinational cross-sectional survey among 20 patients with biallelic RARS1 variants identified by next-generation sequencing techniques. Clinical data, ...
#1Laurence Gauquelin (McGill University)H-Index: 1
#2Ferdy K. Cayami (McGill University)H-Index: 1
Last. Geneviève Bernard (VU: VU University Amsterdam)H-Index: 1
view all 38 authors...
Objective To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. Methods A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C. Brain MRI studies were reviewed. Results Fourteen female and 9 ma...
1 CitationsSource
#1Saskia Elgün (Boston Children's Hospital)
#2Jakob Waibel (Boston Children's Hospital)
Last. Samuel Groeschel (Boston Children's Hospital)H-Index: 12
view all 11 authors...
Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only partly understood, and the variability of the clinical course between siblings is unclear with some evidence for a discrepant clinical course in juvenile patients. The aim of this study was to systematically investigate the phenotypic variation i...
#1Daan M. PannemanH-Index: 1
#2Saskia B WortmannH-Index: 1
Last. W.J.H. KoopmanH-Index: 2
view all 16 authors...
#1Shanice Beerepoot (UU: Utrecht University)
#2Stefan Nierkens (UU: Utrecht University)H-Index: 25
Last. Nicole I. Wolf (VU: VU University Amsterdam)H-Index: 39
view all 6 authors...
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and peripheral nervous system. This leads to a broad range of neurological symptoms and eventually premature death. In asymptomatic patients with juvenile and adult MLD, treatment with allogeneic hematopoiet...
#1Susanne HornH-Index: 15
#2Margaret Au (UCLA: University of California, Los Angeles)
Last. Rami Abou JamraH-Index: 27
view all 21 authors...
Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neurons, PAK1 dimers reside in a trans-inhibited conformation, where each autoinhibitory domain covers the kinase domain of the other monomer. Upon GTPase binding via CDC42 or RAC1, the PAK1 dimers dissoc...