Nicole I. Wolf
VU University Amsterdam
PathologyGeneticsDiabetes mellitusMedicineBiology
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Publications 220
#1Stefan Groeneweg (EUR: Erasmus University Rotterdam)H-Index: 3
#2Ferdy S van Geest (EUR: Erasmus University Rotterdam)H-Index: 1
Last. Ingrid M. van Beynum (EUR: Erasmus University Rotterdam)H-Index: 8
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Summary Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. Methods We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, ...
1 CitationsSource
#1Eline A. Verberne (UvA: University of Amsterdam)
Last. Mieke M. van Haelst (UvA: University of Amsterdam)H-Index: 23
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4H leukodystrophy, also known as Pol III-related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for the common c.1568T>A (p.Val523Glu) POLR3B mutation, both of them showing a remarkably mild clinical course. Here, we report another patient with homozygosity for t...
#1Daan M. Panneman (Boston Children's Hospital)H-Index: 1
#2Saskia B. WortmannH-Index: 22
Last. Werner J.H. KoopmanH-Index: 37
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NGLY1 encodes the enzyme N-glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum-associated degradation pathway. Variants in this gene have been described to cause a multisystem disease characterized by neuromotor impairment, neuropathy, intellectual disability, and dysmorphic features. Here, we describe four patients with pathogenic variants in NGLY1. As the clinical features and laboratory results of the patients suggested a multisystem mitochond...
1 CitationsSource
#2Geneviève BernardH-Index: 21
Last. Daniela PohlH-Index: 30
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Hypomyelinating leukodystrophy with hypodontia and hypogonadotropic hypogonadism (4H leukodystrophy), also known as POLR3-related leukodystrophy, is a genetic disorder caused by autosomal recessive mutations in the POLR3A , POLR3B , POLR1C , or POLR3K genes.1–3 Most patients have progressive motor deficits.4 We present 2 siblings with a milder phenotype and lack of disease progression previously reported within a larger cohort of patients.5
1 CitationsSource
With interest we read the report by Patel et al.1 concerning a patient with Jacobsen syndrome due to an 11q23–11q24 deletion and MRI evidence for leukodystrophy with improvement at a follow-up, substantiated by FLAIR images. The authors claimed that these abnormalities represent hypomyelination. Hypomyelination is defined as a significant and permanent myelin deficit.2 Its MRI appearance is characterized by a diffusely hyperintense T2 white matter (WM) signal, which is less high than the signal ...
#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
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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...
1 CitationsSource
#1Inga Harting (University Hospital Heidelberg)H-Index: 12
#2Murtadha Al-Saady (Boston Children's Hospital)H-Index: 1
Last. Nicole I. Wolf (Boston Children's Hospital)H-Index: 39
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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...
1 CitationsSource
#1Marisa I. S. Mendes (VU: VU University Amsterdam)H-Index: 4
#1Marisa I. Mendes (VU: VU University Amsterdam)H-Index: 2
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, ...
#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
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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...
1 CitationsSource