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Author/Creator Catania, Alessia

1. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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