J J Plomp
Overview
Explore the profile of J J Plomp including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
29
Citations
1244
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0
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Recent Articles
1.
Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter C, Boertje-van der Meulen J, Van Vliet L, Overzier M, et al.
PLoS One
. 2018 May;
13(5):e0197388.
PMID: 29763467
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy....
2.
Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter C, Boertje-van der Meulen J, Van Vliet L, Overzier M, et al.
PLoS One
. 2017 Aug;
12(8):e0182704.
PMID: 28797108
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle...
3.
Huijbers M, Querol L, Niks E, Plomp J, van der Maarel S, Graus F, et al.
Eur J Neurol
. 2015 Jun;
22(8):1151-61.
PMID: 26032110
At least 13 different disease entities affecting the central nervous system, peripheral nervous system and connective tissue of the skin or kidneys are associated with immunoglobulin G4 (IgG4) immune reactivity....
4.
Huijbers M, Lipka A, Plomp J, Niks E, van der Maarel S, Verschuuren J
J Intern Med
. 2013 Nov;
275(1):12-26.
PMID: 24215230
Autoantibodies against three different postsynaptic antigens and one presynaptic antigen at the neuromuscular junction are known to cause myasthenic syndromes. The mechanisms by which these antibodies cause muscle weakness vary...
5.
Zitman F, Todorov B, Jacobs B, Verschuuren J, Furukawa K, Willison H, et al.
Neuroscience
. 2008 Sep;
156(4):885-97.
PMID: 18801416
Gangliosides are a family of sialylated glycosphingolipids enriched in the outer leaflet of neuronal membranes, in particular at synapses. Therefore, they have been hypothesized to play a functional role in...
6.
Kaja S, van de Ven R, Broos L, Frants R, Ferrari M, van den Maagdenberg A, et al.
Neuroscience
. 2006 Dec;
144(4):1278-87.
PMID: 17161543
The severely ataxic and epileptic mouse leaner (Ln) carries a natural splice site mutation in Cacna1a, leading to a C-terminal truncation of the encoded Ca(v)2.1 alpha(1) protein. Ca(v)2.1 is a...
7.
Sons M, Busche N, Strenzke N, Moser T, Ernsberger U, Mooren F, et al.
Neuroscience
. 2006 Jan;
138(2):433-46.
PMID: 16406382
Neurotransmission at chemical synapses of the brain involves alpha-neurexins, neuron-specific cell-surface molecules that are encoded by three genes in mammals. Deletion of alpha-neurexins in mice previously demonstrated an essential function,...
8.
Kaja S, van de Ven R, Broos L, Veldman H, van Dijk J, Verschuuren J, et al.
Neuroscience
. 2005 Aug;
135(1):81-95.
PMID: 16111830
Ca(v)2.1 channels mediate neurotransmitter release at the neuromuscular junction (NMJ) and at many central synapses. Mutations in the encoding gene, CACNA1A, are thus likely to affect neurotransmitter release. Previously, we...
9.
Sons M, Verhage M, Plomp J
Ann N Y Acad Sci
. 2003 Nov;
998:404-6.
PMID: 14592907
No abstract available.
10.
Bullens R, OHanlon G, Wagner E, Molenaar P, Furukawa K, Furukawa K, et al.
Ann N Y Acad Sci
. 2003 Nov;
998:401-3.
PMID: 14592906
No abstract available.