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Showing results for rubboli b
Search for Rubbuoli B instead (1 results)
Complete or Culprit-Only PCI in Older Patients with Myocardial Infarction.
Biscaglia S, Guiducci V, Escaned J, Moreno R, Lanzilotti V, Santarelli A, Cerrato E, Sacchetta G, Jurado-Roman A, Menozzi A, Amat Santos I, Díez Gil JL, Ruozzi M, Barbierato M, Fileti L, Picchi A, Lodolini V, Biondi-Zoccai G, Maietti E, Pavasini R, Cimaglia P, Tumscitz C, Erriquez A, Penzo C, Colaiori I, Pignatelli G, Casella G, Iannopollo G, Menozzi M, Varbella F, Caretta G, Dudek D, Barbato E, Tebaldi M, Campo G; FIRE Trial Investigators. Biscaglia S, et al. N Engl J Med. 2023 Sep 7;389(10):889-898. doi: 10.1056/NEJMoa2300468. Epub 2023 Aug 26. N Engl J Med. 2023. PMID: 37634150 Clinical Trial.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836
RESULTS: The phenotypic spectrum encompassed: (a) intellectual disability/developmental delay (21/22 individuals with available information), ranging from mild to severe/profound; (b) epilepsy (15/25); (c) neurological impairment, with altered muscle tone (14/22); (d) dysm …
RESULTS: The phenotypic spectrum encompassed: (a) intellectual disability/developmental delay (21/22 individuals with available information) …
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Quantitative EEG biomarkers for STXBP1-related disorders.
Cossu A, Furia F, Proietti J, Ancora C, Reale C, Darra F, Previtali R, Bernardina BD, Rubboli G, Beniczky S, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Epilepsia. 2024 Dec;65(12):3595-3606. doi: 10.1111/epi.18154. Epub 2024 Oct 28. Epilepsia. 2024. PMID: 39463124 Free PMC article.
We performed a (1) visual EEG assessment, (b) qEEG analysis, and (c) electrical source imaging (ESI). We quantified the relative power (RP) of four frequency bands (alpha beta, teta, delta), in two electrode groups (anterior/posterior), and compared their averages and dyna …
We performed a (1) visual EEG assessment, (b) qEEG analysis, and (c) electrical source imaging (ESI). We quantified the relative powe …
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. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Kassabian B, Fenger CD, Willems M, Aledo-Serrano A, Linnankivi T, McDonnell PP, Lusk L, Jepsen BS, Bayat M, Kattentidt A, Vidal AA, Valero-Lopez G, Alarcon-Martinez H, Goodspeed K, van Slegtenhorst M, Barakat TS, Møller RS, Johannesen KM, Rubboli G. Kassabian B, et al. Front Neurosci. 2023 Jul 12;17:1219262. doi: 10.3389/fnins.2023.1219262. eCollection 2023. Front Neurosci. 2023. PMID: 37502687 Free PMC article.
Within a family, the same epilepsy type (generalized or focal) was observed; (b) ID reported in 100% and in 13% of probands and siblings or first/second-degree relatives, respectively; (c) learning disabilities detected in 28% of the SLC6A1 carriers, all of them were relat …
Within a family, the same epilepsy type (generalized or focal) was observed; (b) ID reported in 100% and in 13% of probands and sibli …
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A; BIOJUME Consortium; Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Rubboli G, et al. Brain Commun. 2023 Jun 9;5(3):fcad182. doi: 10.1093/braincomms/fcad182. eCollection 2023. Brain Commun. 2023. PMID: 37361715 Free PMC article. Review.
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