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Page 1
Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.
Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, Lacombe V, Terriou L, Ardois S, Bouaziz JD, Mathian A, Le Guenno G, Aouba A, Outh R, Meyer A, Roux-Sauvat M, Ebbo M, Zhao LP, Bigot A, Jamilloux Y, Guillotin V, Flamarion E, Henneton P, Vial G, Jachiet V, Rossignol J, Vinzio S, Weitten T, Vinit J, Deligny C, Humbert S, Samson M, Magy-Bertrand N, Moulinet T, Bourguiba R, Hanslik T, Bachmeyer C, Sebert M, Kostine M, Bienvenu B, Biscay P, Liozon E, Sailler L, Chasset F, Audemard-Verger A, Duroyon E, Sarrabay G, Borlot F, Dieval C, Cluzeau T, Marianetti P, Lobbes H, Boursier G, Gerfaud-Valentin M, Jeannel J, Servettaz A, Audia S, Larue M, Henriot B, Faucher B, Graveleau J, de Sainte Marie B, Galland J, Bouillet L, Arnaud C, Ades L, Carrat F, Hirsch P, Fenaux P, Fain O, Sujobert P, Kosmider O, Mekinian A; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON. Georgin-Lavialle S, et al. Among authors: borlot f. Br J Dermatol. 2022 Mar;186(3):564-574. doi: 10.1111/bjd.20805. Epub 2021 Nov 28. Br J Dermatol. 2022. PMID: 34632574 Free article.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: borlot f. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: borlot f. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: A multicenter retrospective study of 59 cases.
Zakine È, Papageorgiou L, Bourguiba R, Mekinian A, Terrier B, Kosmider O, Hirsch P, Jachiet M, Audia S, Ardois S, Adélaïde L, Bigot A, Duriez P, Emile JF, Lazaro E, Fayard D, Galland J, Hié M, Humbert S, Jean A, Kostine M, Lacombe V, Le Guenno G, Lobbes H, Magy-Bertrand N, Marianetti-Guingel P, Mathian A, Outh R, Saillard C, Samson M, Vial G, Bouaziz JD, Moguelet P, Chasset F; National French VEXAS Study Group (NFVS). Zakine È, et al. J Am Acad Dermatol. 2023 Apr;88(4):917-920. doi: 10.1016/j.jaad.2022.10.052. Epub 2022 Nov 5. J Am Acad Dermatol. 2023. PMID: 36343774 No abstract available.
Movement disorders phenomenology in focal motor seizures.
Fasano A, Di Bonaventura C, Bove F, Espay AJ, Morgante F, Fabbrini G, Munhoz RP, Andrade D, Borlot F, Bui E, Di Gennaro G, Iorio R, Katzberg H, Luigetti M, Striano P, Defazio G, Berardelli A. Fasano A, et al. Among authors: borlot f. Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16. Parkinsonism Relat Disord. 2019. PMID: 30361137
Proposed Pathway for the Utilization of Pediatric Ambulatory EEG.
Borlot F, Kozlik S, Alfaro L, Payne ET, Ho AW, Appendino JP, Scantlebury MH, Jacobs J. Borlot F, et al. J Clin Neurophysiol. 2023 Jul 1;40(5):443-449. doi: 10.1097/WNP.0000000000000906. Epub 2021 Oct 22. J Clin Neurophysiol. 2023. PMID: 37399043
46 results