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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. Courage C, et al. Among authors: jackson cb. Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512363
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: jackson cb. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hytönen MK, et al. Among authors: jackson cb. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9. Hum Genet. 2021. PMID: 33835239 Free PMC article.
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.
Forsström S, Jackson CB, Carroll CJ, Kuronen M, Pirinen E, Pradhan S, Marmyleva A, Auranen M, Kleine IM, Khan NA, Roivainen A, Marjamäki P, Liljenbäck H, Wang L, Battersby BJ, Richter U, Velagapudi V, Nikkanen J, Euro L, Suomalainen A. Forsström S, et al. Among authors: jackson cb. Cell Metab. 2019 Dec 3;30(6):1040-1054.e7. doi: 10.1016/j.cmet.2019.08.019. Epub 2019 Sep 12. Cell Metab. 2019. PMID: 31523008 Free article.
113 results