E-LIB Suche - Ergebnisse für: Nasca, Alessia

1

Emerging variants, unique phenotypes, and transcriptomic si..:

Cavestro, Chiara ; Morra, Francesca ; Legati, Andrea...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1615-1629 , 2024

Link: https://doi.org/10.1002/..

2

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/..

3

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/..

4

Variants in ATP5F1B are associated with dominantly inherite..:

Nasca, Alessia ; Mencacci, Niccolò E ; Invernizzi, Federica...
Brain. 146 (2023) 7 - p. 2730-2738 , 2023

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

5

Expanding the spectrum of neonatal‐onset AIFM1‐associated d..:

Zambon, Alberto A. ; Ghezzi, Daniele ; Baldoli, Cristina...
Annals of Clinical and Translational Neurology. 10 (2023) 10 - p. 1844-1853 , 2023

Link: https://doi.org/10.1002/..

6

Biallelic Variants in ENDOG Associated with Mitochondrial M..:

Nasca, Alessia ; Legati, Andrea ; Meneri, Megi...
Cells. 11 (2022) 6 - p. 974 , 2022

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

7

NovelNDUFA12variants are associated with isolated complex I..:

Torraco, Alessandra ; Nasca, Alessia ; Verrigni, Daniela...
Human Mutation. 42 (2021) 6 - p. 699-710 , 2021

Link: https://doi.org/10.1002/..

8

Novel deep intronic mutation in PLA2G6 causing early-onset ..:

Cavestro, Chiara ; Panteghini, Celeste ; Reale, Chiara...
neurogenetics. 22 (2021) 4 - p. 347-351 , 2021

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

9

Myopathic mitochondrial DNA depletion syndrome associated w..:

Invernizzi, Federica ; Legati, Andrea ; Nasca, Alessia...
Brain. 144 (2021) 9 - p. e74-e74 , 2021

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

10

A novel homozygous MSTO1 mutation in Ashkenazi Jewish sibli..:

Nasca, Alessia ; Di Meo, Ivano ; Fellig, Yakov...
Journal of Human Genetics. 66 (2021) 8 - p. 835-840 , 2021

Link: https://doi.org/10.1038/..

11

Bi‐allelic pathogenic variants inNDUFC2cause early‐onset Le..:

Alahmad, Ahmad ; Nasca, Alessia ; Heidler, Juliana...
EMBO Molecular Medicine. 12 (2020) 11 - p. , 2020

Link: https://doi.org/10.15252..

12

Homozygous mutations inC1QBPas cause of progressive externa..:

Marchet, Silvia ; Legati, Andrea ; Nasca, Alessia...
Human Mutation. 41 (2020) 10 - p. 1745-1750 , 2020

Link: https://doi.org/10.1002/..

13

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Ca..:

Caporali, Leonardo ; Magri, Stefania ; Legati, Andrea...
Annals of Neurology. 88 (2020) 1 - p. 18-32 , 2020

Link: https://doi.org/10.1002/..

14

New missense variants of NDUFA11 associated with late‐onset..:

Peverelli, Lorenzo ; Legati, Andrea ; Lamantea, Eleonora...
Muscle & Nerve. 60 (2019) 2 - p. , 2019

Link: https://doi.org/10.1002/..

15

Clinical-genetic features and peculiar muscle histopatholog..:

Verrigni, Daniela ; Di Nottia, Michela ; Ardissone, Anna...
Human Mutation. 40 (2019) 5 - p. 601-618 , 2019

Link: https://doi.org/10.1002/..