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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: pagnozzi a. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: pagnozzi a. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
Cognitive, academic, executive and psychological functioning in children with spastic motor type cerebral palsy: Influence of extent, location, and laterality of brain lesions.
Laporta-Hoyos O, Pannek K, Pagnozzi AM, Whittingham K, Wotherspoon J, Benfer K, Fiori S, Ware RS, Boyd RN. Laporta-Hoyos O, et al. Among authors: pagnozzi am. Eur J Paediatr Neurol. 2022 May;38:33-46. doi: 10.1016/j.ejpn.2022.02.004. Epub 2022 Mar 16. Eur J Paediatr Neurol. 2022. PMID: 35381411
School readiness of children at high risk of cerebral palsy randomised to early neuroprotection and neurorehabilitation: protocol for a follow-up study of participants from four randomised clinical trials.
Boyd RN, Novak I, Morgan C, Bora S, Sakzewski L, Ware RS, Comans T, Fahey MC, Whittingham K, Trost S, Pannek K, Pagnozzi A, Mcintyre S, Badawi N, Smithers Sheedy H, Palmer KR, Burgess A, Keramat A, Bell K, Hines A, Benfer K, Gascoigne-Pees L, Leishman S, Oftedal S. Boyd RN, et al. Among authors: pagnozzi a. BMJ Open. 2023 Feb 27;13(2):e068675. doi: 10.1136/bmjopen-2022-068675. BMJ Open. 2023. PMID: 36849209 Free PMC article.
35 results