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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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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC.
Flannery KP, et al.
medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843.
medRxiv. 2024.
PMID: 38798571
Free PMC article.
Preprint.
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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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