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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. Accogli A, et al. Among authors: ashtiani s. Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. Brain Commun. 2023. PMID: 37794925 Free PMC article.
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Suchowersky O, Ashtiani S, Au PB, McLeod S, Estiar MA, Gan-Or Z, Rouleau GA. Suchowersky O, et al. Among authors: ashtiani s. Clin Park Relat Disord. 2021 Nov 3;5:100114. doi: 10.1016/j.prdoa.2021.100114. eCollection 2021. Clin Park Relat Disord. 2021. PMID: 34816117 Free PMC article.
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Among authors: ashtiani s. Parkinsonism Relat Disord. 2022 May;98:62-69. doi: 10.1016/j.parkreldis.2022.03.019. Epub 2022 Apr 16. Parkinsonism Relat Disord. 2022. PMID: 35487127
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Chrestian N, et al. Among authors: ashtiani s. Neurol Genet. 2016 Dec 5;3(1):e122. doi: 10.1212/NXG.0000000000000122. eCollection 2017 Feb. Neurol Genet. 2016. PMID: 27957547 Free PMC article.
53 results