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Year Number of Results
2011 1
2012 3
2013 6
2014 1
2015 1
2016 1
2021 1
2022 3
2023 3
2024 3

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18 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.
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.
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.
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.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C. Saunier C, et al. Among authors: de bie c. Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4. Hum Mutat. 2016. PMID: 27094817 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.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: de bie c. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
18 results