Nicole I. Wolf
Boston Children's Hospital
GeneInternal medicinePhenotypeEndocrinologyPathologyMagnetic resonance imagingExome sequencingNeurosciencePediatricsLeukodystrophyMetachromatic leukodystrophyEpilepsyMyelinDiseaseAtaxiaAtrophyWhite matterMutationGeneticsMedicineCohortMissense mutationBiology
234Publications
48H-index
6,182Citations
Publications 226
Newest
#1Parand Zarekiani (VU: VU University Amsterdam)
#2Marjolein BreurH-Index: 13
Last. Marianna Bugiani (VU: VU University Amsterdam)H-Index: 13
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The blood-brain barrier is a dynamic endothelial cell barrier in the brain microvasculature that separates the blood from the brain parenchyma. Specialized brain endothelial cells, astrocytes, neurons, microglia and pericytes together compose the neurovascular unit and interact to maintain blood-brain barrier function. A disturbed brain barrier function is reported in most common neurological disorders and may play a role in disease pathogenesis. However, a comprehensive overview of how the neur...
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#1Murtadha L. Al-Saady (VU: VU University Amsterdam)
Last. Nicole I. Wolf (VU: VU University Amsterdam)H-Index: 48
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The enzyme ubiquitin-like modifier activating enzyme 5 (UBA5) plays an important role in activating ubiquitin-fold modifier 1 (UFM1) and its associated cascade. UFM1 is widely expressed and known to facilitate the post-translational modification of proteins. Variants in UBA5 and UFM1 are involved in neurodevelopmental disorders with early-onset epileptic encephalopathy as a frequently seen disease manifestation. Using whole exome sequencing, we detected a homozygous UBA5 variant (c.895C > T p. [...
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Last. M. S. van der Knaap (VU: VU University Amsterdam)H-Index: 3
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BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%–10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects. MATERIALS AND METHODS: One hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were identified...
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#1Nicole I. WolfH-Index: 48
Last. Marjo S van der Knaap (Boston Children's Hospital)H-Index: 6
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Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. Most patients with severe hypomyelination present in infancy or early childhood and develop severe neurological deficits, but the clinical presentation can also be mild with onset of symptoms in adolescence or adulthood. MRI can be used to visualize the process of myelination in detail, and MRI pattern recognition can provide a clinical diagnosis in many pa...
8 CitationsSource
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design An international cross-sectio...
5 CitationsSource
#1Ferdy S. van Geest (EUR: Erasmus University Rotterdam)H-Index: 3
#2Marcel E. Meima (EUR: Erasmus University Rotterdam)H-Index: 12
Last. Stefan Groeneweg (EUR: Erasmus University Rotterdam)H-Index: 6
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Context Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum thyroid function tests, known as MCT8 deficiency. The C-terminal domain of MCT8 is poorly conserved, which complicates predicting the deleteriousness of variants in this region. We studied the functional consequences of five novel variants within this domain and their relation to the clinical phenotypes. Methods We enrolled male subjects with intellec...
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While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have "the knowledge travel instead of the patient," which has been pu...
2 CitationsSource
#1Djurdja Djordjevic (U of T: University of Toronto)
#2Maxime PinardH-Index: 1
Last. Grace Yoon (U of T: University of Toronto)H-Index: 27
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Summary POLR3B encodes the second-largest catalytic subunit of RNA polymerase III, an enzyme involved in transcription. Bi-allelic pathogenic variants in POLR3B are a well-established cause of hypomyelinating leukodystrophy. We describe six unrelated individuals with de novo missense variants in POLR3B and a clinical presentation substantially different from POLR3-related leukodystrophy. These individuals had afferent ataxia, spasticity, variable intellectual disability and epilepsy, and predomi...
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#1Stefan GroenewegH-Index: 6
#2Robin P. PeetersH-Index: 37
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#1Sabine A. Fuchs (UU: Utrecht University)H-Index: 14
#2Imre F. Schene (UU: Utrecht University)H-Index: 4
Last. Peter M. van Hasselt (UU: Utrecht University)H-Index: 26
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The reported QARS deficient patient carries the QARS1 mutation (NM_005051.2) c.793C>T p.(Arg265Cys and not Arg25Cys). In addition, in Fig. 5, the reported p.Lys476* in QARS1 should have been p.Lys496* (Kodera H, Osaka H, Iai M, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97–101. https://doi.org/10.1038/ jhg.2014.103). Finally, we have been informed that the patient described by Datta et al. (Datta A, Ferguson A, Simonso...
1 CitationsSource