E-LIB Suche - Ergebnisse für: Salani, Sabrina

1

Soft cerebellar signs unveil RARS2‐related epilepsy:

Yahya, Vidal ; Dilena, Robertino ; Del Bo, Roberto...
Epileptic Disorders. , 2024

2

Extracellular Matrix Disorganization and Sarcolemmal Altera..:

Zanotti, Simona ; Magri, Francesca ; Salani, Sabrina...
International Journal of Molecular Sciences. 24 (2023) 6 - p. 5551 , 2023

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

3

Prominent muscle involvement in a familial form of mitochon..:

Rimoldi, Martina ; Magri, Francesca ; Antognozzi, Sara...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

4

A biallelic variant in COX18 cause isolated Complex IV defi..:

Ronchi, Dario ; Garbellini, Manuela ; Magri, Francesca...
European Journal of Human Genetics. 31 (2023) 12 - p. 1414-1420 , 2023

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

5

Combined RNA interference and gene replacement therapy targ..:

Rizzo, Federica ; Bono, Silvia ; Ruepp, Marc David...
Cellular and Molecular Life Sciences. 80 (2023) 12 - p. , 2023

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

6

Characterization of Skeletal Muscle Biopsy and Derived Myob..:

Zanotti, Simona ; Ripolone, Michela ; Napoli, Laura...
Cells. 12 (2023) 10 - p. 1405 , 2023

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

7

Molecular analysis of SMARD1 patient-derived cells demonstr..:

Taiana, Michela ; Govoni, Alessandra ; Salani, Sabrina...
Journal of Neurology, Neurosurgery & Psychiatry. 93 (2022) 8 - p. 908-910 , 2022

Link: https://doi.org/10.1136/..

8

Transcriptomic characterization of tissues from patients an..:

Kakouri, Andrea C. ; Votsi, Christina ; Oulas, Anastasis...
Cell & Bioscience. 12 (2022) 1 - p. , 2022

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

9

Antisense Morpholino-Based In Vitro Correction of a Pseudoe..:

Magri, Francesca ; Zanotti, Simona ; Salani, Sabrina...
International Journal of Molecular Sciences. 23 (2022) 17 - p. 9817 , 2022

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

10

A Novel Homozygous VPS11 Variant May Cause Generalized Dyst..:

Monfrini, Edoardo ; Cogiamanian, Filippo ; Salani, Sabrina...
Annals of Neurology. 89 (2021) 4 - p. 834-839 , 2021

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

11

Dystonia‐ataxia syndrome with permanent torsional nystagmus..:

Ronchi, Dario ; Monfrini, Edoardo ; Bonato, Sara...
Annals of Clinical and Translational Neurology. 7 (2020) 5 - p. 839-845 , 2020

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

12

Loss of the nucleoporin Aladin in central nervous system an..:

Bitetto, Giacomo ; Ronchi, Dario ; Bonato, Sara...
Human Molecular Genetics. 28 (2019) 23 - p. 3921-3927 , 2019

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

13

RNAi/gene therapy combined approach as therapeutic strategy..:

Rizzo, Federica ; Bono, Silvia ; Salani, Sabrina...
Neurology. 92 (2019) 15_supplement - p. , 2019

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

14

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular ..:

Rizzo, Federica ; Nizzardo, Monica ; Vashisht, Shikha...
Brain. 142 (2019) 2 - p. 276-294 , 2019

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

15

Human induced pluripotent stem cell models for the study an..:

Piga, Daniela ; Salani, Sabrina ; Magri, Francesca...
Therapeutic Advances in Neurological Disorders. 12 (2019) - p. 175628641983347 , 2019

Link: https://doi.org/10.1177/..