E-LIB Suche - Ergebnisse für: Ronchi, Dario

1

Association between ZASP/LDB3 Pro26Ser and Inclusion Body M..:

Piga, Daniela ; Zanotti, Simona ; Ripolone, Michela...
International Journal of Molecular Sciences. 25 (2024) 12 - p. 6547 , 2024

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

2

Case report: A novel patient presenting TRIM32-related limb..:

Rimoldi, Martina ; Romagnoli, Gloria ; Magri, Francesca...
Frontiers in Neurology. 14 (2024) - p. , 2024

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

3

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/..

4

Case report: A novel ACTA1 variant in a patient with nemali..:

Piga, Daniela ; Rimoldi, Martina ; Magri, Francesca...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

5

Unleashing the potential of mRNA therapeutics for inherited..:

Monfrini, Edoardo ; Baso, Giacomo ; Ronchi, Dario...
Brain. , 2024

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

6

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/..

7

Speech, Gait, and Vestibular Function in Cerebellar Ataxia ..:

Di Rauso, Giulia ; Castellucci, Andrea ; Cavallieri, Francesco...
Brain Sciences. 13 (2023) 10 - p. 1467 , 2023

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

8

Clinical Phenotype of Pediatric and Adult Patients With Spi..:

Ricci, Martina ; Cicala, Gianpaolo ; Capasso, Anna...
Annals of Neurology. 94 (2023) 6 - p. 1126-1135 , 2023

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

9

SCARB1 downregulation in adrenal insufficiency with Allgrov..:

Bitetto, Giacomo ; Lopez, Gianluca ; Ronchi, Dario...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

10

Clinical and molecular features of patients with amyotrophi..:

Gagliardi, Delia ; Ripellino, Paolo ; Meneri, Megi...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

11

Don't forget Allgrove syndrome in adult patients as a bulba..:

Vigano', Martina ; Mantero, Vittorio ; Basilico, Paola...
Neurological Sciences. 44 (2023) 10 - p. 3703-3705 , 2023

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

12

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/..

13

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/..

14

Case report: Clinical and molecular characterization of two..:

Velardo, Daniele ; Antognozzi, Sara ; Rimoldi, Martina...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

15

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/..