E-LIB Suche - Ergebnisse für: Lamperti, Costanza

1

Genetic variants affecting NQO1 protein levels impact the e..:

Aleo, Serena Jasmine ; Del Dotto, Valentina ; Romagnoli, Martina...
Cell Reports Medicine. 5 (2024) 2 - p. 101383 , 2024

Link: https://doi.org/10.1016/..

2

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

3

New insights into idebenone therapy in relation to NQO1:

La Morgia, Chiara ; Aleo, Serena Jasmine ; Del Dotto, Valentina...
Acta Ophthalmologica. 102 (2024) S279 - p. , 2024

Link: https://doi.org/10.1111/..

4

A novel MT-ATP6 variant associated with complicated ataxia ..:

Sala, Daniele ; Marchet, Silvia ; Nanetti, Lorenzo...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

5

Management of seizures in patients with primary mitochondri..:

Mancuso, Michelangelo ; Papadopoulou, Maria T. ; Ng, Yi Shiau...
European Journal of Neurology. 31 (2024) 7 - p. , 2024

Link: https://doi.org/10.1111/..

6

Digenic Leigh syndrome on the background of the m.11778G>A ..:

Blickhäuser, Beryll ; Stenton, Sarah L ; Neuhofer, Christiane M...
Brain. 147 (2024) 6 - p. 1967-1974 , 2024

Link: https://doi.org/10.1093/..

7

Generation of iPSCs from identical twin, one affected by LH..:

Peron, Camille ; Cavaliere, Andrea ; Fasano, Chiara...
Stem Cell Research. 77 (2024) - p. 103406 , 2024

Link: https://doi.org/10.1016/..

8

De Novo DNM1L Mutation in a Patient with Encephalopathy, Ca..:

Berti, Beatrice ; Verrigni, Daniela ; Nasca, Alessia...
International Journal of Molecular Sciences. 25 (2024) 14 - p. 7782 , 2024

Link: https://doi.org/10.3390/..

9

Phenotyping mitochondrial DNA‐related diseases in childhood..:

Ardissone, Anna ; Ferrera, Giulia ; Lamperti, Costanza...
European Journal of Neurology. 30 (2023) 7 - p. 2079-2091 , 2023

Link: https://doi.org/10.1111/..

10

Nanopore long-read next-generation sequencing for detection..:

Frascarelli, Chiara ; Zanetti, Nadia ; Nasca, Alessia...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

Efficacy and Safety of Elamipretide in Individuals With Pri..:

Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio...
Neurology. 101 (2023) 3 - p. , 2023

Link: https://doi.org/10.1212/..

12

Evaluation of Mitochondrial Dysfunction and Idebenone Respo..:

Baglivo, Mirko ; Nasca, Alessia ; Lamantea, Eleonora...
International Journal of Molecular Sciences. 24 (2023) 16 - p. 12580 , 2023

Link: https://doi.org/10.3390/..

13

Current management of primary mitochondrial disorders in EU..:

Mancuso, Michelangelo ; Lopriore, Piervito ; Lamperti, Costanza...
Journal of Neurology. , 2023

Link: https://doi.org/10.1007/..

14

NGS-Based Genetic Analysis in a Cohort of Italian Patients ..:

Invernizzi, Federica ; Izzo, Rossella ; Colangelo, Isabel...
Genes. 14 (2023) 7 - p. 1393 , 2023

Link: https://doi.org/10.3390/..

15

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
European Journal of Neurology. 30 (2022) 2 - p. 511-526 , 2022

Link: https://doi.org/10.1111/..