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Page 1
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Franceschi R, Maines E, Bellizzi M, Rivieri F, Bacca A, Filippi A, Valente EM, Plumari M, Soffiati M, Vincenzi M, Teofoli F, Camilot M. Franceschi R, et al. Among authors: plumari m. Arch Endocrinol Metab. 2023 Jan 18;67(1):143-149. doi: 10.20945/2359-3997000000546. Epub 2022 Dec 1. Arch Endocrinol Metab. 2023. PMID: 36468928 Free PMC article.
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: plumari m. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F. Magri S, et al. Among authors: plumari m. Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10. Hum Mutat. 2018. PMID: 30252181 Free article.
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Saracino A, Totaro M, Politano D, DE Giorgis V, Gana S, Papalia G, Pichiecchio A, Plumari M, Rognone E, Varesio C, Orcesi S. Saracino A, et al. Among authors: plumari m. Neuropediatrics. 2024 Apr;55(2):129-134. doi: 10.1055/s-0044-1779613. Epub 2024 Feb 16. Neuropediatrics. 2024. PMID: 38365198
15 results