Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

21

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

enthalten in: Neuromuscular disorders : NMD | 2023

von Rodríguez Cruz, P. | Ravenscroft, G. | Natera, D. | +18

22

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

enthalten in: Journal of neurology | 2023

von Oskoui, M. | Day, J. | Deconinck, N. | +19

23

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

enthalten in: Journal of neurology | 2023

von Oskoui, M. | Day, J. | Deconinck, N. | +19

24

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

enthalten in: Frontiers in cell and developmental biology | 2023

von Cesar, S. | Campuzano, O. | Cruzalegui, J. | +16

25

LMNA-related muscular dystrophy : Identification of variants in alternative genes and personalized clinical translation

enthalten in: Frontiers in genetics | 2023

von Cesar, S. | Coll, M. | Fiol, V. | +23

26

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

enthalten in: Journal of neuromuscular diseases | 2023

von Trifunov, S. | Natera-de Benito, D. | Carrera-García, L. | +12

27

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

enthalten in: Annals of Clinical and Translational Neurology | 2023

von Natera‐de Benito, D. | Olival, J. | Garcia‐Cabau, C. | +11

28

Treatment of spinal muscular atrophy in European countries : A call to action

enthalten in: European journal of neurology | 2022

von Vázquez-Costa, J. | Martínez-Moreno, M. | Madruga-Garrido, M. | +6

29

Pathological Features in Paediatric Patients with TK2 Deficiency

enthalten in: International journal of molecular sciences | 2022

von Jou, C. | Nascimento, A. | Codina, A. | +19

30

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

enthalten in: Biomedicines | 2022

von Koehorst, E. | Odria, R. | Capó, J. | +17