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Items: 38

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

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.

Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9.

3.

Correction: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Sep 27. doi: 10.1038/s41436-018-0325-9. [Epub ahead of print]

PMID:
30262923
4.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2018 Aug 29. doi: 10.1038/s41436-018-0284-1. [Epub ahead of print]

PMID:
30158694
5.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

PMID:
30093711
6.

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.

Schoeler NE, Leu C, Balestrini S, Mudge JM, Steward CA, Frankish A, Leung MA, Mackay M, Scheffer I, Williams R, Sander JW, Cross JH, Sisodiya SM.

Epilepsia. 2018 Aug;59(8):1557-1566. doi: 10.1111/epi.14516. Epub 2018 Jul 16.

7.

Diagnostic Biomarkers of Epilepsy.

Sueri C, Gasparini S, Balestrini S, Labate A, Gambardella A, Russo E, Leo A, Casarotto S, Pittau F, Trimboli M, Cianci V, Ascoli M, Cavalli SM, Ferrigno G, Aguglia U, Ferlazzo E.

Curr Pharm Biotechnol. 2018;19(6):440-450. doi: 10.2174/1389201019666180713095251. Review.

PMID:
30003857
8.

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Coppola A, Morrogh D, Farrell F, Balestrini S, Hernandez-Hernandez L, Krithika S, Sander JW, Waters JJ, Sisodiya SM.

Mol Syndromol. 2017 Dec;9(1):38-44. doi: 10.1159/000479949. Epub 2017 Sep 15.

9.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
10.

Treatment of Epileptic Encephalopathies.

Balestrini S, Sisodiya SM.

Curr Pharm Des. 2017;23(37):5667-5690. doi: 10.2174/1381612823666170809115827.

PMID:
28799511
11.

Stable isotopes reveal the effect of trawl fisheries on the diet of commercially exploited species.

Hinz H, Moranta J, Balestrini S, Sciberras M, Pantin JR, Monnington J, Zalewski A, Kaiser MJ, Sköld M, Jonsson P, Bastardie F, Hiddink JG.

Sci Rep. 2017 Jul 24;7(1):6334. doi: 10.1038/s41598-017-06379-6.

12.

Pharmacogenomics in epilepsy.

Balestrini S, Sisodiya SM.

Neurosci Lett. 2018 Feb 22;667:27-39. doi: 10.1016/j.neulet.2017.01.014. Epub 2017 Jan 10. Review.

13.

From Cannabis to Cannabidiol to Treat Epilepsy, Where Are We?

Lippiello P, Balestrini S, Leo A, Coppola A, Citraro R, Elia M, Russo E, De Sarro G.

Curr Pharm Des. 2016;22(42):6426-6433. doi: 10.2174/1381612822666160831122722. Review.

PMID:
27587196
14.

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.

J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.

15.

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.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

16.

Audit of use of stiripentol in adults with Dravet syndrome.

Balestrini S, Sisodiya SM.

Acta Neurol Scand. 2017 Jan;135(1):73-79. doi: 10.1111/ane.12611. Epub 2016 May 27.

17.

The challenges of treating epilepsy with 25 antiepileptic drugs.

Santulli L, Coppola A, Balestrini S, Striano S.

Pharmacol Res. 2016 May;107:211-219. doi: 10.1016/j.phrs.2016.03.016. Epub 2016 Mar 16. Review.

PMID:
26995307
18.

Safe use of perampanel in a carrier of variegate porphyria.

Balestrini S, Hart Y, Thunell S, Sisodiya SM.

Pract Neurol. 2016 Jun;16(3):217-9. doi: 10.1136/practneurol-2015-001305. Epub 2016 Feb 2. No abstract available.

PMID:
26837372
19.

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.

Epilepsy Behav. 2016 Mar;56:38-43. doi: 10.1016/j.yebeh.2015.12.038. Epub 2016 Jan 29.

PMID:
26827300
20.

Reply: The dorsal cingulate cortex as a critical gateway in the network supporting conscious awareness.

Balestrini S, Francione S, Mai R, Castana L, Casaceli G, Marino D, Provinciali L, Cardinale F, Tassi L.

Brain. 2016 Apr;139(Pt 4):e24. doi: 10.1093/brain/awv382. Epub 2015 Dec 30. No abstract available.

PMID:
26719381
21.

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.

EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep.

22.

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.

Brain. 2015 Oct;138(Pt 10):2907-19. doi: 10.1093/brain/awv233. Epub 2015 Aug 10.

23.

Diagnostic delay and prognosis in primary central nervous system lymphoma compared with glioblastoma multiforme.

Cerqua R, Balestrini S, Perozzi C, Cameriere V, Renzi S, Lagalla G, Mancini G, Montanari M, Leoni P, Scerrati M, Iacoangeli M, Silvestrini M, Luzzi S, Provinciali L.

Neurol Sci. 2016 Jan;37(1):23-9. doi: 10.1007/s10072-015-2353-4. Epub 2015 Aug 2.

PMID:
26233232
24.

Applying a perceptions and practicalities approach to understanding nonadherence to antiepileptic drugs.

Chapman SC, Horne R, Eade R, Balestrini S, Rush J, Sisodiya SM.

Epilepsia. 2015 Sep;56(9):1398-407. doi: 10.1111/epi.13097. Epub 2015 Jul 27.

25.

Multimodal responses induced by cortical stimulation of the parietal lobe: a stereo-electroencephalography study.

Balestrini S, Francione S, Mai R, Castana L, Casaceli G, Marino D, Provinciali L, Cardinale F, Tassi L.

Brain. 2015 Sep;138(Pt 9):2596-607. doi: 10.1093/brain/awv187. Epub 2015 Jun 29.

PMID:
26129769
26.

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.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):396-401. doi: 10.1136/jnnp-2015-310521. Epub 2015 Apr 17.

27.

Markers for the risk of progression from mild cognitive impairment to Alzheimer's disease.

Buratti L, Balestrini S, Altamura C, Viticchi G, Falsetti L, Luzzi S, Provinciali L, Vernieri F, Silvestrini M.

J Alzheimers Dis. 2015;45(3):883-90. doi: 10.3233/JAD-143135.

PMID:
25633680
28.

Sex-associated differences in the modulation of vascular risk in patients with asymptomatic carotid stenosis.

Buratti L, Balestrini S, Avitabile E, Altamura C, Vernieri F, Viticchi G, Falsetti L, Provinciali L, Silvestrini M.

J Cereb Blood Flow Metab. 2015 Mar 31;35(4):684-8. doi: 10.1038/jcbfm.2014.248.

29.

Increased common carotid artery wall thickness is associated with rapid progression of asymptomatic carotid stenosis.

Diomedi M, Scacciatelli D, Misaggi G, Balestrini S, Balucani C, Sallustio F, Di Legge S, Stanzione P, Silvestrini M.

J Neuroimaging. 2014 Sep-Oct;24(5):473-8. Epub 2013 Nov 25.

PMID:
25340183
30.

Coasting, embryo development and outcomes of blastocyst transfer: a case-control study.

Talebi Chahvar S, Zosmer A, Caragia A, Balestrini S, Sabatini L, Tranquilli AL, Al-Shawaf T.

Reprod Biomed Online. 2014 Aug;29(2):231-8. doi: 10.1016/j.rbmo.2014.04.014. Epub 2014 May 15.

PMID:
24912420
31.

Generalized epilepsy in a patient with myotonic dystrophy type 2.

Cagnetti C, Buratti L, Foschi N, Balestrini S, Provinciali L.

Neurol Sci. 2014 Mar;35(3):489-90. doi: 10.1007/s10072-013-1578-3. Epub 2013 Nov 26. No abstract available.

PMID:
24277201
32.

Emergency room access for recurring seizures: when and why.

Balestrini S, Cagnetti C, Foschi N, Buratti L, Petrelli C, Luzzi S, Silvestrini M, Provinciali L.

Eur J Neurol. 2013 Oct;20(10):1411-6. doi: 10.1111/ene.12203. Epub 2013 Jun 7.

PMID:
23745953
33.

Burden of uncontrolled epilepsy in patients requiring an emergency room visit or hospitalization.

Balestrini S, Provinciali L, Benbadis SR.

Neurology. 2013 Jun 4;80(23):2170. doi: 10.1212/01.wnl.0000431418.01737.3f. No abstract available.

PMID:
23733555
34.

Percutaneous transluminal angioplasty for chronic cerebrospinal venous insufficiency in multiple sclerosis: dichotomy between subjective and objective outcome scores.

Zagaglia S, Balestrini S, Perticaroli E, Danni MC, Luzzi S, Silvestrini M, Provinciali L.

Neurol Sci. 2013 Dec;34(12):2205-10. doi: 10.1007/s10072-013-1450-5. Epub 2013 May 10.

PMID:
23660636
35.

Severe carotid stenosis and impaired cerebral hemodynamics can influence cognitive deterioration.

Balestrini S, Perozzi C, Altamura C, Vernieri F, Luzzi S, Bartolini M, Provinciali L, Silvestrini M.

Neurology. 2013 Jun 4;80(23):2145-50. doi: 10.1212/WNL.0b013e318295d71a. Epub 2013 Apr 26.

PMID:
23624562
36.

One-year progression of moderate asymptomatic carotid stenosis predicts the risk of vascular events.

Balestrini S, Lupidi F, Balucani C, Altamura C, Vernieri F, Provinciali L, Silvestrini M.

Stroke. 2013 Mar;44(3):792-4. doi: 10.1161/STROKEAHA.112.671461. Epub 2013 Jan 3.

PMID:
23287778
37.

Hyperinsulinemia is a predictor of new cardiovascular events in Colombian patients with a first myocardial infarction.

García RG, Rincón MY, Arenas WD, Silva SY, Reyes LM, Ruiz SL, Ramirez F, Camacho PA, Luengas C, Saaibi JF, Balestrini S, Morillo C, López-Jaramillo P.

Int J Cardiol. 2011 Apr 1;148(1):85-90. doi: 10.1016/j.ijcard.2009.10.030. Epub 2009 Nov 17.

PMID:
19923024
38.

Thermal-neutron fission cross section of 26.1-min 235Um.

Talbert WL Jr, Starner JW, Estep RJ, Balestrini SJ, Attrep M Jr, Efurd DW, Roensch FR.

Phys Rev C Nucl Phys. 1987 Nov;36(5):1896-1899. No abstract available.

PMID:
9954298

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