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Year Number of Results
2004 2
2006 2
2007 2
2008 1
2010 3
2011 1
2012 1
2013 2
2015 1
2016 4
2017 1
2018 2
2019 2
2020 6
2021 2
2022 2
2023 2
2024 1

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34 results

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Page 1
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: weschke b. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ. Huschner F, et al. Among authors: weschke b. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, Blazejczyk M, Jaworski J, Kwiatkowski DJ, Jozwiak S, Kotulska K, Sadowski K, Borkowska J, Curatolo P, Mills JD, Aronica E, Epistop Consortium Members. Scheper M, et al. Among authors: weschke b. Biomedicines. 2022 Jul 29;10(8):1838. doi: 10.3390/biomedicines10081838. Biomedicines. 2022. PMID: 36009385 Free PMC article.
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE; EPISTOP consortium. Hulshof HM, et al. Among authors: weschke b. Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31. Neurology. 2022. PMID: 35101906
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. De Ridder J, et al. Among authors: weschke b. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. Epilepsia. 2021. PMID: 33778971 Clinical Trial.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Among authors: weschke b. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics.
De Ridder J, Lavanga M, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Van Huffel S, Lagae L. De Ridder J, et al. Among authors: weschke b. Front Neurol. 2020 Oct 16;11:582891. doi: 10.3389/fneur.2020.582891. eCollection 2020. Front Neurol. 2020. PMID: 33178126 Free PMC article.
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. Becker LL, et al. Among authors: weschke b. J Hum Genet. 2020 Nov;65(11):1003-1017. doi: 10.1038/s10038-020-0803-1. Epub 2020 Aug 12. J Hum Genet. 2020. PMID: 32788638 Free PMC article.
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Van Schooneveld MM, Samueli S, Maulisovà A, Aronica E, Kwiatkowski DJ, Jansen FE, Jozwiak S, Curatolo P; EPISTOP Consortium. Moavero R, et al. Among authors: weschke b. Ann Clin Transl Neurol. 2020 Aug;7(8):1371-1381. doi: 10.1002/acn3.51128. Epub 2020 Jul 23. Ann Clin Transl Neurol. 2020. PMID: 32705817 Free PMC article. Clinical Trial.
34 results