I agree that this site is using cookies. You can find further informations here.
X
Alessia Nasca
73  results:
Search for persons X
?
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

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/..
 
?
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

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/..
 
?
6

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/..
 
?
7

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/..
 
?
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

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/..
 
?
13

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/..
 
?
14

Clinical and Biochemical Features in a Patient With Mitocho..:

Nasca, Alessia ; Nardecchia, Francesca ; Commone, Anna...
Frontiers in Genetics.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
?
15

Not only dominant, not only optic atrophy: expanding the cl..:

Nasca, Alessia ; Rizza, Teresa ; Doimo, Mara...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
1-15