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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464.
medRxiv. 2024.
PMID: 38405817
Free PMC article.
Preprint.
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.
Safwat S, et al. Among authors: flannery kp.
Neurogenetics. 2024 Apr;25(2):93-102. doi: 10.1007/s10048-024-00745-z. Epub 2024 Feb 1.
Neurogenetics. 2024.
PMID: 38296890
Free PMC article.
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Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Karas BF, Terez KR, Mowla S, Battula N, Flannery KP, Gural BM, Aboussleman G, Mubin N, Manzini MC.
Karas BF, et al. Among authors: flannery kp.
Hum Mol Genet. 2024 Apr 8;33(8):709-723. doi: 10.1093/hmg/ddae006.
Hum Mol Genet. 2024.
PMID: 38272461
Free PMC article.
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