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Author/Creator Verrigni, Daniela

1. 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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2. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins. (14th May 2018)

Authors:
Torraco, Alessandra; Stehling, Oliver; Stümpfig, Claudia; Rösser, Ralf; De Rasmo, Domenico; Fiermonte, Giuseppe; Verrigni, Daniela; Rizza, Teresa; Vozza, Angelo; Di Nottia, Michela; Diodato, Daria; Martinelli, Diego; Piemonte, Fiorella; Dionisi-Vici, Carlo; Bertini, Enrico; Lill, Roland; Carrozzo...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 15(2018:Aug. 01)
Page Start:
2739
Record Type:
Journal Article
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3. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins. (2nd August 2018)

Authors:
Torraco, Alessandra; Stehling, Oliver; Stümpfig, Claudia; Rösser, Ralf; De Rasmo, Domenico; Fiermonte, Giuseppe; Verrigni, Daniela; Rizza, Teresa; Vozza, Angelo; Di Nottia, Michela; Diodato, Daria; Martinelli, Diego; Piemonte, Fiorella; Dionisi-Vici, Carlo; Bertini, Enrico; Lill, Roland; Carrozzo...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 20(2018:Oct. 15)
Page Start:
3650
Record Type:
Journal Article
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5. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing. Issue 10 (18th June 2019)

Authors:
Saoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL‐Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Am...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1731
Record Type:
Journal Article
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6. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Issue 6 (25th March 2021)

Authors:
Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S.; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rötig...
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
699
Record Type:
Journal Article
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8. Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Issue 2 (16th October 2015)

Authors:
Carrozzo, Rosalba; Verrigni, Daniela; Rasmussen, Magnhild; de Coo, Rene; Amartino, Hernan; Bianchi, Marzia; Buhas, Daniela; Mesli, Samir; Naess, Karin; Born, Alfred Peter; Woldseth, Berit; Prontera, Paolo; Batbayli, Mustafa; Ravn, Kirstine; Joensen, Fróði; Cordelli, Duccio M.; Santorelli, Filippo...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 2(2016)
Page Start:
243
Record Type:
Journal Article
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