Marian A J Weterman
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Explore the profile of Marian A J Weterman including associated specialties, affiliations and a list of published articles.
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22
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614
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Recent Articles
1.
Weterman M, Bronk M, Jongejan A, Hoogendijk J, Krudde J, Karjosukarso D, et al.
Neuromuscul Disord
. 2022 Dec;
33(1):58-64.
PMID: 36539320
Three families suspected of distal hereditary motor neuropathy underwent genetic screening with the aim to identify the molecular defect underlying the disease. The description of the identification reflects the shift...
2.
Weterman M, Kuo M, Kenter S, Gordillo S, Karjosukarso D, Takase R, et al.
Hum Mol Genet
. 2018 Aug;
27(23):4036-4050.
PMID: 30124830
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer...
3.
Hakonen J, Sorrentino V, Avagliano Trezza R, de Wissel M, van den Berg M, Bleijlevens B, et al.
Hum Mol Genet
. 2017 Mar;
26(11):2034-2041.
PMID: 28335037
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a...
4.
Aerts M, Weterman M, Quadri M, Jurgen Schelhaas H, Bloem B, Esselink R, et al.
Ann Clin Transl Neurol
. 2016 Feb;
3(2):146-9.
PMID: 26900582
LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three...
5.
Weterman M, Barth P, Spaendonck-Zwarts K, Aronica E, Poll-The B, Brouwer O, et al.
Brain
. 2013 Feb;
136(Pt 1):282-93.
PMID: 23365102
A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families. Here...
6.
Weterman M, Sorrentino V, Kasher P, Jakobs M, van Engelen B, Fluiter K, et al.
Hum Mol Genet
. 2011 Oct;
21(2):358-70.
PMID: 22012984
Despite the high number of genes identified in hereditary polyneuropathies/Charcot-Marie-Tooth (CMT) disease, the genetic defect in many families is still unknown. Here we report the identification of a new gene...
7.
Zhang F, Seeman P, Liu P, Weterman M, Gonzaga-Jauregui C, Towne C, et al.
Am J Hum Genet
. 2010 May;
86(6):892-903.
PMID: 20493460
Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy...
8.
Weterman M, van Ruissen F, de Wissel M, Bordewijk L, Samijn J, van der Pol W, et al.
Eur J Hum Genet
. 2009 Nov;
18(4):421-8.
PMID: 19888301
In several individuals with a Charcot-Marie-Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene....
9.
Kuijpers T, van de Vijver E, Weterman M, de Boer M, Tool A, van den Berg T, et al.
Blood
. 2008 Dec;
113(19):4740-6.
PMID: 19064721
Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from...
10.
Budde B, Namavar Y, Barth P, Poll-The B, Nurnberg G, Becker C, et al.
Nat Genet
. 2008 Aug;
40(9):1113-8.
PMID: 18711368
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and...