E-LIB Suche - Ergebnisse für: Eleonora Lamantea

1

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

2

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/..

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

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/..

5

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine. 25 (2023) 11 - p. 100938 , 2023

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

6

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/..

7

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/..

8

A new family with a case of severe early-onset muscle fatig..:

Ghirigato, Elena ; Terenzi, Francesca ; Baglivo, Mirko...
Neuromuscular Disorders. 33 (2023) 12 - p. 972-977 , 2023

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

9

Clinical, neuroradiological and molecular characterization ..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
info:eu-repo/semantics/altIdentifier/pmid/37454282. , 2023

Link: https://hdl.handle.net/2..

10

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

Frascarelli, Chiara ; Zanetti, Nadia ; Nasca, Alessia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10344361/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100938. , 2023

Link: https://hal.science/hal-..

12

Evaluation of Mitochondrial Dysfunction and Idebenone Respo..:

Mirko Baglivo ; Alessia Nasca ; Eleonora Lamantea...
info:eu-repo/semantics/altIdentifier/pmid/37628761. , 2023

Link: https://hdl.handle.net/2..

13

DataSheet1_Nanopore long-read next-generation sequencing fo..:

Chiara Frascarelli ; Nadia Zanetti ; Alessia Nasca...
doi:10.3389/fgene.2023.1089956.s001. , 2023

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

14

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

Chiara Frascarelli ; Nadia Zanetti ; Alessia Nasca...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1089956/full. , 2023

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

15

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

Federica Invernizzi ; Rossella Izzo ; Isabel Colangelo...
Human Genomics and Genetic Diseases. , 2023

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