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Page 1
Telemedicine for Individuals with epilepsy: Recommendations from the International League Against Epilepsy Telemedicine Task Force.
Samia P, Sahu JK, Ali A, Caraballo RH, Chan J, Coan AC, Fortini PS, Gwer S, Jocic-Jakubi B, Kissani N, Rivera Y, Sarfo FS, Singh MB, Trinka E, Yoo JY, Yu HY, Zelano J, Cross JH. Samia P, et al. Among authors: jocic jakubi b. Seizure. 2023 Mar;106:85-91. doi: 10.1016/j.seizure.2023.02.005. Epub 2023 Feb 10. Seizure. 2023. PMID: 36803864 Free article. Review.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco F, Arrigoni F, Serpieri V, Romaniello R, Caputi C, Manti F, Jocic-Jakubi B, Lucarelli E, Panzeri E, Bonaglia MC, Chiapparini L, Pichiecchio A, Pinelli L, Righini A, Leuzzi V, Borgatti R, Valente EM. D'Abrusco F, et al. Among authors: jocic jakubi b. Cerebellum. 2022 Dec;21(6):1144-1150. doi: 10.1007/s12311-021-01350-8. Epub 2021 Nov 30. Cerebellum. 2022. PMID: 34846692
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Among authors: jocic jakubi b. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
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