Richard J Rodenburg
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Explore the profile of Richard J Rodenburg including associated specialties, affiliations and a list of published articles.
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135
Citations
4042
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Recent Articles
1.
Miltenburg J, Gorissen M, van Outersterp I, Versteeg I, Nowak A, Rodenburg R, et al.
Int J Mol Sci
. 2024 Jul;
25(13).
PMID: 39000369
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours arising from chromaffin cells. Pathogenic variants in the gene are associated with malignancy and poor prognosis. When metastases arise, limited treatment options...
2.
de Muijnck C, Ten Brink J, de Haan H, Rodenburg R, Wolf N, Bergen A, et al.
Genes (Basel)
. 2024 May;
15(5).
PMID: 38790159
Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic...
3.
de Muijnck C, van Schooneveld M, Plomp A, Rodenburg R, van Genderen M, Boon C
Am J Ophthalmol Case Rep
. 2024 May;
34:102070.
PMID: 38756953
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of gene variant m.8969G > A. Observations: A 20-year-old patient with a history...
4.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, et al.
Mov Disord
. 2024 Apr;
39(7):1225-1231.
PMID: 38685873
Background: The MRPS36 gene encodes a recently identified component of the 2-oxoglutarate dehydrogenase complex (OGDHC), a key enzyme of the Krebs cycle catalyzing the oxidative decarboxylation of 2-oxoglutarate to succinyl-CoA....
5.
Abu Hanna F, Zehavi Y, Cohen-Barak E, Khayat M, Warwar N, Shreter R, et al.
Orphanet J Rare Dis
. 2024 Feb;
19(1):92.
PMID: 38419071
Background: Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic...
6.
Verhoeven J, Kramer J, Seeger J, Molenaar J, Braakman H, Kamsteeg E, et al.
Neurology
. 2024 Feb;
102(5):e209164.
PMID: 38373275
Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the gene. It is characterized by an exercise-induced delay in muscle relaxation, often reported as muscle stiffness....
7.
de Winter J, Molenaar J, Yuen M, van der Pijl R, Shen S, Conijn S, et al.
J Clin Invest
. 2024 Feb;
134(3).
PMID: 38299595
No abstract available.
8.
van Strien J, Evers F, Lutikurti M, Berendsen S, Garanto A, van Gemert G, et al.
PLoS Comput Biol
. 2023 Aug;
19(8):e1011090.
PMID: 37549177
Complexome profiling allows large-scale, untargeted, and comprehensive characterization of protein complexes in a biological sample using a combined approach of separating intact protein complexes e.g., by native gel electrophoresis, followed...
9.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Bulthuis E, Adjobo-Hermans M, de Potter B, Hoogstraten S, Wezendonk L, Tutakhel O, et al.
Biochim Biophys Acta Mol Basis Dis
. 2023 Jul;
1869(8):166808.
PMID: 37454773
Ionic calcium (Ca) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca uniporter...
10.
Allard N, Janssen L, Lagerwaard B, Nuijten M, Bongers C, Rodenburg R, et al.
J Am Coll Cardiol
. 2023 Apr;
81(14):1353-1364.
PMID: 37019582
Background: Statin use may exacerbate exercise-induced skeletal muscle injury caused by reduced coenzyme Q10 (CoQ10) levels, which are postulated to produce mitochondrial dysfunction. Objectives: We determined the effect of prolonged...