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Page 1
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
J Lipid Res. 2023 Dec;64(12):100464. doi: 10.1016/j.jlr.2023.100464. Epub 2023 Oct 27.
J Lipid Res. 2023.
PMID: 37890668
Free PMC article.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG.
Lopes Abath Neto O, et al. Among authors: kolokotronis k.
Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275.
Brain. 2021.
PMID: 34581780
Free PMC article.
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Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.
Cirnu A, Kolokotronis K, Walz K, Kilinç A, Janz A, Williams T, Busch A, Rost S, Gerull B.
Cirnu A, et al. Among authors: kolokotronis k.
Circ Genom Precis Med. 2021 Feb;14(1):e003217. doi: 10.1161/CIRCGEN.120.003217. Epub 2021 Feb 1.
Circ Genom Precis Med. 2021.
PMID: 33517666
No abstract available.
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Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S.
Kühnisch J, et al. Among authors: kolokotronis k.
Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22.
Clin Genet. 2019.
PMID: 31568572
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Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B.
Kolokotronis K, et al.
Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24.
Hum Mutat. 2019.
PMID: 30924982
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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, Tejman-Yarden S, Arad M, Rost S, Gerull B.
Kolokotronis K, et al.
J Clin Med. 2020 Jul 9;9(7):2168. doi: 10.3390/jcm9072168.
J Clin Med. 2020.
PMID: 32659924
Free PMC article.
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A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J.
Zaum AK, et al. Among authors: kolokotronis k.
Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20.
Neuromuscul Disord. 2018.
PMID: 30017359
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