E-LIB Suche - Ergebnisse für: Marini-Bettolo, Chiara

1

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024

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

2

Disease Trajectories in the Revised Hammersmith Scale in a ..:

Wolfe, Amy ; Stimpson, Georgia ; Ramsey, Danielle...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 665-677 , 2024

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

3

Life-Saving Treatments for Spinal Muscular Atrophy: Global ..:

Armengol, Victor D. ; Darras, Basil T. ; Abulaban, Ahmad A....
Neurology Clinical Practice. 14 (2024) 1 - p. , 2024

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

4

The myotubular and centronuclear myopathy patient registry:..:

Bullivant, Joanne ; Sen, Anando ; Page, Jess...
Neuromuscular Disorders. 35 (2024) - p. 42-52 , 2024

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

5

Therapeutic Role of Nusinersen on Respiratory Progression i..:

Trucco, Federica ; Ridout, Deborah ; Weststrate, Harriet...
Neurology Clinical Practice. 14 (2024) 3 - p. , 2024

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

6

Imaging mass cytometry analysis of Becker muscular dystroph..:

Piñol-Jurado, Patricia ; Verdú-Díaz, José ; Fernández-Simón, Esther...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

7

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Us..:

Cornell, Nikki ; Childs, Anne-Marie ; Wraige, Elizabeth...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 361-368 , 2024

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

8

Muscle magnetic resonance imaging of a large cohort of dist..:

Esteller, Diana ; Morrow, Jasper ; Alonso-Pérez, Jorge...
Neuromuscular Disorders. 33 (2023) 10 - p. 744-753 , 2023

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

9

Decoding the transcriptome of Duchenne muscular dystrophy t..:

Suárez-Calvet, Xavier ; Fernández-Simón, Esther ; Natera, Daniel...
Cell Death & Disease. 14 (2023) 9 - p. , 2023

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

10

Emery–Dreifuss muscular dystrophy Type 1 is associated with..:

Cannie, Douglas E ; Syrris, Petros ; Protonotarios, Alexandros...
European Heart Journal. 44 (2023) 48 - p. 5064-5073 , 2023

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

11

2-Year Change in Revised Hammersmith Scale Scores in a Larg..:

Stimpson, Georgia ; Ramsey, Danielle ; Wolfe, Amy...
Journal of Clinical Medicine. 12 (2023) 5 - p. 1920 , 2023

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

12

254th ENMC international workshop. Formation of a European ..:

Walter, Maggie C. ; Laforêt, Pascal ; van der Pol, W. Ludo...
Neuromuscular Disorders. 33 (2023) 6 - p. 511-522 , 2023

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

13

Autosomal dominant in cis D4Z4 repeat array duplication all..:

Lemmers, Richard J L F ; Butterfield, Russell ; van der Vliet, Patrick J...
Brain. , 2023

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

14

Real-World Data on Access to Standards of Care for People W..:

Muni-Lofra, Robert ; Murphy, Lindsay B. ; Adcock, Kate...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

15

Validation of the North Star Assessment for Limb-Girdle Typ..:

James, Meredith K ; Alfano, Lindsay N ; Muni-Lofra, Robert...
Physical Therapy. 102 (2022) 10 - p. , 2022

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