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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 2
2012 2
2013 4
2014 1
2015 1
2016 1
2017 1
2019 1
2022 2
2023 2
2024 2

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15 results

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Page 1
Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
de Boer EMJ, Demaegd KC, de Bie CI, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. Among authors: de bie ci. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):53-60. doi: 10.1080/21678421.2023.2255621. Epub 2023 Sep 7. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37679883 Review.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP, Adjobo-Hermans MJW, de Potter B, Hoogstraten S, Wezendonk LHT, Tutakhel OAZ, Wintjes LT, van den Heuvel B, Willems PHGM, Kamsteeg EJ, Gozalbo MER, Sallevelt SCEH, Koudijs SM, Nicolai J, de Bie CI, Hoogendijk JE, Koopman WJH, Rodenburg RJ. Bulthuis EP, et al. Among authors: de bie ci. Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166808. doi: 10.1016/j.bbadis.2023.166808. Epub 2023 Jul 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37454773 Free article.
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.
Demaegd K, Brilstra EH, Hoogendijk JE, de Bie CI, de Pagter MS, van Hecke W, Mühlebner A, van Es MA, Milone M, van Rheenen W. Demaegd K, et al. Among authors: de bie ci. Neuromuscul Disord. 2022 Jun;32(6):527-532. doi: 10.1016/j.nmd.2022.04.007. Epub 2022 Apr 27. Neuromuscul Disord. 2022. PMID: 35641352 Free article. Review.
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A. Martin R, et al. Among authors: de bie ci. Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14. Eur J Hum Genet. 2019. PMID: 31201375 Free PMC article.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, Nemegeer M, Meester JAN, Afenjar A, Amaral M, Ballhausen D, Barnett S, Barth M, Asselbergh B, Spaas K, Heeman B, Bassetti J, Blackburn P, Schaer M, Blanc X, Zoete V, Casas K, Courtin T, Doummar D, Guerry F, Keren B, Pappas J, Rabin R, Begtrup A, Shinawi M, Vulto-van Silfhout AT, Kleefstra T, Wagner M, Ziegler A, Schaefer E, Gerard B, De Bie CI, Holwerda SJB, Abbot MA, Antonarakis SE, Loeys B. Meuwissen M, et al. Among authors: de bie ci. Genet Med. 2022 Jul;24(7):1583-1591. doi: 10.1016/j.gim.2022.04.003. Epub 2022 May 2. Genet Med. 2022. PMID: 35499524 Free article.
A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.
Groen K, van der Vis JJ, van Batenburg AA, Kazemier KM, de Bruijn MJW, Stadhouders R, Arp P, Verkerk AJMH, Schoemaker AE, de Bie CI, Massink MPG, van Beek FT, Grutters JC, Vergouw LJM, van Moorsel CHM. Groen K, et al. Among authors: de bie ci. ERJ Open Res. 2024 Feb 19;10(1):00487-2023. doi: 10.1183/23120541.00487-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38375433 Free PMC article.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: de bie ci. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V. Houge G, et al. Among authors: de bie ci. J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13. J Clin Invest. 2015. PMID: 26168268 Free PMC article.
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I. Philips AK, et al. Among authors: de bie ci. Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27311568
15 results