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Author/Creator Marchet, Silvia

1. A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. Issue 12 (27th October 2017)

Authors:
Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
815
Record Type:
Journal Article
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2. Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy. Issue 5 (9th March 2019)

Authors:
Verrigni, Daniela; Di Nottia, Michela; Ardissone, Anna; Baruffini, Enrico; Nasca, Alessia; Legati, Andrea; Bellacchio, Emanuele; Fagiolari, Gigliola; Martinelli, Diego; Fusco, Lucia; Battaglia, Domenica; Trani, Giulia; Versienti, Gianmarco; Marchet, Silvia; Torraco, Alessandra; Rizza, Teresa; Ver...
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
601
Record Type:
Journal Article
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3. Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions. Issue 10 (22nd July 2020)

Authors:
Marchet, Silvia; Legati, Andrea; Nasca, Alessia; Di Meo, Ivano; Spagnolo, Manuela; Zanetti, Nadia; Lamantea, Eleonora; Catania, Alessia; Lamperti, Costanza; Ghezzi, Daniele
Journal:
Human mutation
Issue:
Volume 41:Issue 10(2020)
Page Start:
1745
Record Type:
Journal Article
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4. Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. Issue 5 (17th February 2019)

Authors:
Catania, Alessia; Legati, Andrea; Peverelli, Lorenzo; Nanetti, Lorenzo; Marchet, Silvia; Zanetti, Nadia; Lamperti, Costanza; Ghezzi, Daniele
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 5(2019)
Page Start:
827
Record Type:
Journal Article
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5. Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy. (December 2020)

Authors:
Montano, Vincenzo; Gruosso, Francesco; Carelli, Valerio; Comi, Giacomo Pietro; Filosto, Massimiliano; Lamperti, Costanza; Mongini, Tiziana; Musumeci, Olimpia; Servidei, Serenella; Tonin, Paola; Toscano, Antonio; Modenese, Angela; Primiano, Guido; Valentino, Maria Lucia; Bortolani, Sara; Marchet, ...
Journal:
Neurology
Issue:
Volume 6:Number 6(2020)
Page Start:
Record Type:
Journal Article
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