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Page 1
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Balestrini S, et al. Among authors: padiath qs. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913013 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).
Lo Martire V, Alvente S, Bastianini S, Berteotti C, Bombardi C, Calandra-Buonaura G, Capellari S, Cohen G, Cortelli P, Gasparini L, Padiath Q, Valli A, Zoccoli G, Silvani A. Lo Martire V, et al. Exp Neurol. 2018 Mar;301(Pt A):1-12. doi: 10.1016/j.expneurol.2017.12.006. Epub 2017 Dec 17. Exp Neurol. 2018. PMID: 29262292 Free PMC article.
Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina.
Nmezi B, Xu J, Fu R, Armiger TJ, Rodriguez-Bey G, Powell JS, Ma H, Sullivan M, Tu Y, Chen NY, Young SG, Stolz DB, Dahl KN, Liu Y, Padiath QS. Nmezi B, et al. Among authors: padiath qs. Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4307-4315. doi: 10.1073/pnas.1810070116. Epub 2019 Feb 14. Proc Natl Acad Sci U S A. 2019. PMID: 30765529 Free PMC article.
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Liao J, et al. Among authors: padiath qs. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 5. Mol Genet Genomic Med. 2021. PMID: 33666368 Free PMC article.
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression.
Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y, Estécio MR, Lin K, Chen J, He RR, Gong P, Rigatti LH, Dupree J, Bayır H, Kagan VE, Casaccia P, Padiath QS. Rolyan H, et al. Among authors: padiath qs. J Neurosci. 2015 Aug 26;35(34):12002-17. doi: 10.1523/JNEUROSCI.1668-15.2015. J Neurosci. 2015. PMID: 26311780 Free PMC article.
34 results