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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.
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.
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.
65 results