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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: brescia g. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E, Pesini A, Biella F, Sobreira CFR, Emmanuele V, Brescia G, Lopez LC, Tadesse S, Hirano M, Comi GP, Quinzii CM, Di Fonzo A. Monfrini E, et al. Among authors: brescia g. Neurol Genet. 2023 Mar 14;9(2):e200058. doi: 10.1212/NXG.0000000000200058. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090936 Free PMC article.
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A. Monfrini E, et al. Among authors: brescia g. Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12. Mov Disord Clin Pract. 2024. PMID: 38291845 Free PMC article.
Poor timing and failure of source control are risk factors for mortality in critically ill patients with secondary peritonitis.
De Pascale G, Antonelli M, Deschepper M, Arvaniti K, Blot K, Brown BC, de Lange D, De Waele J, Dikmen Y, Dimopoulos G, Eckmann C, Francois G, Girardis M, Koulenti D, Labeau S, Lipman J, Lipovetsky F, Maseda E, Montravers P, Mikstacki A, Paiva JA, Pereyra C, Rello J, Timsit JF, Vogelaers D, Blot S; Abdominal Sepsis Study (AbSeS) group and the Trials Group of the European Society of Intensive Care Medicine. De Pascale G, et al. Intensive Care Med. 2022 Nov;48(11):1593-1606. doi: 10.1007/s00134-022-06883-y. Epub 2022 Sep 23. Intensive Care Med. 2022. PMID: 36151335
76 results