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Author/Creator Plumari, Massimo

2. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network. (30th April 2022)

Authors:
Rossi, Salvatore; Rubegni, Anna; Riso, Vittorio; Barghigiani, Melissa; Bassi, Maria Teresa; Battini, Roberta; Bertini, Enrico; Cereda, Cristina; Cioffi, Ettore; Criscuolo, Chiara; Dal Fabbro, Beatrice; Dato, Clemente; D'Angelo, Maria Grazia; Di Muzio, Antonio; Diamanti, Luca; Dotti, Maria Teresa;...
Journal:
Neurology
Issue:
Volume 8:Number 2(2022)
Page Start:
Record Type:
Journal Article
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3. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. Issue 12 (10th October 2018)

Authors:
Magri, Stefania; Fracasso, Valentina; Plumari, Massimo; Alfei, Enrico; Ghezzi, Daniele; Gellera, Cinzia; Rusmini, Paola; Poletti, Angelo; Di Bella, Daniela; Elia, Antonio E.; Pantaleoni, Chiara; Taroni, Franco
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2060
Record Type:
Journal Article
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4. Expanding the spectrum of clinical severity of AICA‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene. Issue 2 (11th November 2022)

Authors:
Galli, Jessica; Valente, Enza Maria; Dewulf, Joseph; Franzoni, Alessandra; Marie, Sandrine; Plumari, Massimo; Zanetti, Federica; Fazzi, Elisa
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
575
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗