Suchergebnisse - "Magri, Francesca"

PubPharm (265)

1

Diffusion tensor imaging reveals subclinical alterations in muscles of patients with becker muscular dystrophy

enthalten in: The British journal of radiology | 2024

von Nava, S. | Conte, G. | Triulzi, F. | +4

2

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

enthalten in: Science translational medicine | 2024

von Donkervoort, S. | van de Locht, M. | Ronchi, D. | +41

3

Cognitive abnormalities in Becker muscular dystrophy : a mysterious link between dystrophin deficiency and executive functions

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Pezzoni, L. | Brusa, R. | Difonzo, T. | +5

4

Case report : A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

enthalten in: Frontiers in neurology | 2024

von Piga, D. | Rimoldi, M. | Magri, F. | +11

5

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

enthalten in: European journal of human genetics : EJHG | 2023

von Ronchi, D. | Garbellini, M. | Magri, F. | +23

CommentIn: Eur J Hum Genet. 2023 Oct 4;:. - PMID 37789086

6

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

enthalten in: International journal of molecular sciences | 2023

von Magri, F. | Napoli, L. | Ripolone, M. | +6

7

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies : Are They Really All Stable?

enthalten in: Annals of neurology | 2023

von Ricci, M. | Cicala, G. | Capasso, A. | +72

8

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions

enthalten in: Neurological sciences | 2023

von Pezzoni, L. | Brusa, R. | Difonzo, T. | +5

9

Correction to : Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

enthalten in: Neurology and therapy | 2023

von Chiriboga, C. | Bruno, C. | Duong, T. | +114

ErratumFor: Neurol Ther. 2023 Apr;12(2):543-557. - PMID 36780114

10

Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment : a 2-year follow-up multicenter retrospective study

enthalten in: Cellular and molecular life sciences : CMLS | 2023

von Faravelli, I. | Gagliardi, D. | Abati, E. | +15

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