Rosalina M L van Spaendonk
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Explore the profile of Rosalina M L van Spaendonk including associated specialties, affiliations and a list of published articles.
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12
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Recent Articles
1.
Passchier E, Bisseling Q, Helman G, van Spaendonk R, Simons C, Olsthoorn R, et al.
Front Genet
. 2024 Mar;
15:1352947.
PMID: 38487253
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy...
2.
de Groot P, Kwakernaak A, van Leeuwen E, van Spaendonk R, Kooi E, de Jong D, et al.
Front Med (Lausanne)
. 2023 Dec;
10:1264329.
PMID: 38143450
Here we present the case of a 28-year-old man with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. He presented with immune thrombocytopenia within 1...
3.
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, et al.
J Clin Endocrinol Metab
. 2020 Oct;
106(2):e660-e674.
PMID: 33005949
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...
4.
Gauquelin L, Cayami F, Sztriha L, Yoon G, Tran L, Guerrero K, et al.
Neurol Genet
. 2020 Feb;
5(6):e369.
PMID: 32042905
Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic pathogenic variants. Methods: A cross-sectional observational study involving 25 centers worldwide was...
5.
Harting I, Al-Saady M, Krageloh-Mann I, Bley A, Hempel M, Bierhals T, et al.
Neurogenetics
. 2020 Jan;
21(2):121-133.
PMID: 31940116
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...
6.
Klok M, Bakels H, Postma N, van Spaendonk R, van der Knaap M, Bugiani M
Ann Clin Transl Neurol
. 2015 Aug;
2(7):774-9.
PMID: 26273690
Aicardi-Goutières syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-α. The relation between interferon-α and brain pathology is poorly understood. We report a patient with mutations in the...
7.
Kevelam S, Taube J, van Spaendonk R, Bertini E, Sperle K, Tarnopolsky M, et al.
Ann Clin Transl Neurol
. 2015 Jul;
2(6):648-61.
PMID: 26125040
Objective: The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS). Methods: We included 16 patients from 10 families...
8.
Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno G, Tran L, Benko W, et al.
Orphanet J Rare Dis
. 2015 Jun;
10:69.
PMID: 26045207
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients,...
9.
Cayami F, La Piana R, van Spaendonk R, Nickel M, Bley A, Guerrero K, et al.
Neuropediatrics
. 2015 May;
46(3):221-8.
PMID: 26011300
Objective: This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods And Results:...
10.
Wolf N, Vanderver A, van Spaendonk R, Schiffmann R, Brais B, Bugiani M, et al.
Neurology
. 2014 Oct;
83(21):1898-905.
PMID: 25339210
Objective: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. Methods: We performed a multinational...