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Page 1
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Among authors: polatynska k. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 Free PMC article.
The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland.
Brola W, Steinborn B, Żak M, Mazurkiewicz-Bełdzińska M, Jóźwiak S, Sobolewski P, Wilski M, Bilska M, Siedlarska M, Puzio-Bochen I, Wencel-Warot A, Lemka M, Kroczka S, Czyżyk E, Bocheńska M, Emich-Widera E, Pietruszewski J, Boćkowski L, Kapica-Topczewska K, Czarnowska A, Kułakowska A, Ujma-Czapska B, Gruna-Ożarowska A, Przysło Ł, Połatyńska K, Dudzińska M, Mitosek-Szewczyk K, Melnyk A, Adamczyk-Sowa M, Kotulska K. Brola W, et al. Among authors: polatynska k. J Clin Med. 2022 Dec 17;11(24):7494. doi: 10.3390/jcm11247494. J Clin Med. 2022. PMID: 36556109 Free PMC article.
Pediatric-onset multiple sclerosis in Poland: A registry-based retrospective cohort study.
Brola W, Steinborn B, Niewada M, Mazurkiewicz-Bełdzińska M, Jóźwiak S, Sobolewski P, Żak M, Wilski M, Bilska M, Siedlarska M, Puzio-Bochen I, Wencel-Warot A, Lemka M, Kroczka S, Czyżyk E, Bocheńska M, Emich-Widera E, Pietruszewski J, Boćkowski L, Kapica-Topczewska K, Chorąży M, Kułakowska A, Ujma-Czapska B, Przysło Ł, Połatyńska K, Dudzińska M, Mitosek-Szewczyk K, Melnyk A, Knap M, Kotulska K. Brola W, et al. Among authors: polatynska k. Mult Scler Relat Disord. 2022 Jan;57:103344. doi: 10.1016/j.msard.2021.103344. Epub 2021 Oct 25. Mult Scler Relat Disord. 2022. PMID: 35158453