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Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.
Messina M, Arena A, Fiumara A, Iacobacci R, Meli C, Raudino F. Messina M, et al. Among authors: raudino f. Int J Neonatal Screen. 2020 Jul 28;6(3):58. doi: 10.3390/ijns6030058. Int J Neonatal Screen. 2020. PMID: 33239584 Free PMC article.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network. Quadri M, et al. Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Lancet Neurol. 2018. PMID: 29887161
Thrombolysis in thrombocytopenic stroke patients: a case report.
De Piazza C, Raudino F. De Piazza C, et al. Among authors: raudino f. Acta Neurol Belg. 2017 Sep;117(3):749-751. doi: 10.1007/s13760-016-0720-4. Epub 2016 Nov 14. Acta Neurol Belg. 2017. PMID: 27844445 No abstract available.
Effect of alteplase on the CT hyperdense artery sign and outcome after ischemic stroke.
Mair G, von Kummer R, Morris Z, von Heijne A, Bradey N, Cala L, Peeters A, Farrall AJ, Adami A, Potter G, Cohen G, Sandercock PA, Lindley RI, Wardlaw JM; IST-3 Collaborative Group. Mair G, et al. Neurology. 2016 Jan 12;86(2):118-25. doi: 10.1212/WNL.0000000000002236. Epub 2015 Dec 9. Neurology. 2016. PMID: 26658907 Free PMC article. Clinical Trial.
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