E-LIB Suche - Ergebnisse für: Fernanda Fortunato

1

Patient preferences in genetic newborn screening for rare d..:

MARTIN, Sylvia ; Angolini, Emanuele ; Audi, Jennifer...
BMJ Open. 14 (2024) 4 - p. e081835 , 2024

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

2

DMD deletions underlining mild dystrophinopathies: literatu..:

Fortunato, Fernanda ; Tonelli, Laura ; Farnè, Marianna..
Frontiers in Neurology. 14 (2024) - p. , 2024

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

3

mRNA in situ hybridization exhibits unbalanced nuclear/cyto..:

Falzarano, Maria Sofia ; Mietto, Martina ; Fortunato, Fernanda...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

4

TeleNEwCARe: An Italian case-control telegenetics study in ..:

Farnè, Marianna ; Fortunato, Fernanda ; Neri, Marcella...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104749 , 2023

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

5

Biomarkers in Duchenne Muscular Dystrophy: Current Status a..:

Fortunato, Fernanda ; Ferlini, Alessandra
Journal of Neuromuscular Diseases. 10 (2023) 6 - p. 987-1002 , 2023

Link: https://doi.org/10.3233/..

6

Digital health and Clinical Patient Management System (CPMS..:

Fortunato, Fernanda ; Bianchi, Francesca ; Ricci, Giulia...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

7

263rd ENMC International Workshop: Focus on female carriers..:

Sarkozy, Anna ; Quinlivan, Rosaline ; Bourke, John P....
Neuromuscular Disorders. 33 (2023) 3 - p. 274-284 , 2023

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

8

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two It..:

Colucci, Fabiana ; Neri, Marcella ; Fortunato, Fernanda...
The Cerebellum. 22 (2022) 6 - p. 1313-1319 , 2022

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

9

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022

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

10

The DMD gene and therapeutic approaches to restore dystroph..:

Fortunato, Fernanda ; Farnè, Marianna ; Ferlini, Alessandra
Neuromuscular Disorders. 31 (2021) 10 - p. 1013-1020 , 2021

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

11

Innovative Therapeutic Approaches for Duchenne Muscular Dys..:

Fortunato, Fernanda ; Rossi, Rachele ; Falzarano, Maria Sofia.
Journal of Clinical Medicine. 10 (2021) 4 - p. 820 , 2021

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

12

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Corre..:

Passarelli, Chiara ; Selvatici, Rita ; Carrieri, Alberto...
Frontiers in Genetics. 11 (2020) - p. , 2020

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

13

The Genetic Landscape of Dystrophin Mutations in Italy: A N..:

Neri, Marcella ; Rossi, Rachele ; Trabanelli, Cecilia...
Frontiers in Genetics. 11 (2020) - p. , 2020

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

14

A novel emerin gene mutation in Emery Dreifuss muscular dys..:

Pancheri, Elia ; Bozzetti, Silvia ; Rimessi, Paola...
Clinical Neurology and Neurosurgery. 186 (2019) - p. 105536 , 2019

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

15

Report of a novel ATP7A mutation causing distal motor neuro..:

Gualandi, Francesca ; Sette, Elisabetta ; Fortunato, Fernanda...
Neuromuscular Disorders. 29 (2019) 10 - p. 776-785 , 2019

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