Suchergebnisse - "Nascimento, Andrés"

PubPharm (6)

1

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

enthalten in: Neuromuscular disorders : NMD | 2024

von Martinez-Marin, R. | Reyes-Leiva, D. | Nascimento, A. | +39

2

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

3

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

enthalten in: Neuromuscular disorders : NMD | 2020

von Bobadilla-Quesada, E. | Natera-de Benito, D. | Carrera-García, L. | +15

4

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

enthalten in: Neuromuscular disorders : NMD | 2017

von Fernández-Marmiesse, A. | Carrascosa-Romero, M. | Alfaro Ponce, B. | +8

5

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

enthalten in: Neuromuscular disorders : NMD | 2017

von Llano-Diez, M. | Ortez, C. | Gay, J. | +5

6

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

enthalten in: Neuromuscular disorders : NMD | 2006

von Colomer, J. | Gooding, R. | Angelicheva, D. | +6

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