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Page 1
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. Among authors: balestrini s. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy.
Balestrini S, Clayton LM, Bartmann AP, Chinthapalli K, Novy J, Coppola A, Wandschneider B, Stern WM, Acheson J, Bell GS, Sander JW, Sisodiya SM. Balestrini S, et al. J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):396-401. doi: 10.1136/jnnp-2015-310521. Epub 2015 Apr 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25886782 Free PMC article.
Structural imaging biomarkers of sudden unexpected death in epilepsy.
Wandschneider B, Koepp M, Scott C, Micallef C, Balestrini S, Sisodiya SM, Thom M, Harper RM, Sander JW, Vos SB, Duncan JS, Lhatoo S, Diehl B. Wandschneider B, et al. Among authors: balestrini s. Brain. 2015 Oct;138(Pt 10):2907-19. doi: 10.1093/brain/awv233. Epub 2015 Aug 10. Brain. 2015. PMID: 26264515 Free PMC article.
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Leu C, et al. Among authors: balestrini s. EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep. EBioMedicine. 2015. PMID: 26501104 Free PMC article.
Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy.
Coppola A, Caccavale C, Santulli L, Balestrini S, Cagnetti C, Licchetta L, Esposito M, Bisulli F, Tinuper P, Provinciali L, Minetti C, Zara F, Striano P, Striano S. Coppola A, et al. Among authors: balestrini s. Epilepsy Behav. 2016 Mar;56:38-43. doi: 10.1016/j.yebeh.2015.12.038. Epub 2016 Jan 29. Epilepsy Behav. 2016. PMID: 26827300
Safe use of perampanel in a carrier of variegate porphyria.
Balestrini S, Hart Y, Thunell S, Sisodiya SM. Balestrini S, et al. Pract Neurol. 2016 Jun;16(3):217-9. doi: 10.1136/practneurol-2015-001305. Epub 2016 Feb 2. Pract Neurol. 2016. PMID: 26837372 No abstract available.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. Balestrini S, et al. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281533 Free PMC article.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: balestrini s. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
117 results