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RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA. Zagaglia S, et al. Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/WNL.0000000000011543. Epub 2021 Jan 27. Neurology. 2021. PMID: 33504645 Free PMC article.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, An I; Genomics England Research Consortium; Picard F, Navarro V, Sisodiya SM, Baulac S. Bacq A, et al. Among authors: zagaglia s. Ann Neurol. 2022 Jan;91(1):101-116. doi: 10.1002/ana.26256. Epub 2021 Nov 16. Ann Neurol. 2022. PMID: 34693554 Free PMC article.
Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.
Perulli M, Poole J, Di Lazzaro G, D'Ambrosio S, Silvennoinen K, Zagaglia S, Jiménez-Jiménez D, Battaglia D, Sisodiya SM, Balestrini S. Perulli M, et al. Among authors: zagaglia s. Mov Disord Clin Pract. 2021 Dec 29;9(2):206-211. doi: 10.1002/mdc3.13388. eCollection 2022 Feb. Mov Disord Clin Pract. 2021. PMID: 35141355 Free PMC article.
Physiological symmetry of transcranial magnetic stimulation-evoked EEG spectral features.
D'Ambrosio S, Jiménez-Jiménez D, Silvennoinen K, Zagaglia S, Perulli M, Poole J, Comolatti R, Fecchio M, Sisodiya SM, Balestrini S. D'Ambrosio S, et al. Among authors: zagaglia s. Hum Brain Mapp. 2022 Dec 15;43(18):5465-5477. doi: 10.1002/hbm.26022. Epub 2022 Jul 21. Hum Brain Mapp. 2022. PMID: 35866186 Free PMC article.
Short- and long-interval intracortical inhibition in EPM1 is related to genotype.
Silvennoinen K, Säisänen L, Hyppönen J, Rissanen SM, Karjalainen PA, D'Ambrosio S, Jimenez-Jimenez D, Zagaglia S, Rothwell JC, Balestrini S, Sisodiya SM, Julkunen P, Mervaala E, Kälviäinen R. Silvennoinen K, et al. Among authors: zagaglia s. Epilepsia. 2023 Jan;64(1):208-217. doi: 10.1111/epi.17466. Epub 2022 Dec 1. Epilepsia. 2023. PMID: 36398398 Free PMC article.
27 results