Suchergebnisse - "Nascimento, Andrés"

PubPharm (67)

1

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy : 25 Roma individuals carrying a founder variant

enthalten in: Journal of medical genetics | 2023

von Justel, M. | Jou, C. | Sariego-Jamardo, A. | +29

2

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

enthalten in: Cell death & disease | 2023

von Suárez-Calvet, X. | Fernández-Simón, E. | Natera, D. | +19

3

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis : new splicing events

enthalten in: Journal of medical genetics | 2023

von Segarra-Casas, A. | Domínguez-González, C. | Hernández-Laín, A. | +12

4

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

enthalten in: Acta neuropathologica | 2023

von Nascimento, A. | Bruels, C. | Donkervoort, S. | +31

5

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

6

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

7

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

enthalten in: The Journal of molecular diagnostics : JMD | 2022

von Bullich, G. | Matalonga, L. | Pujadas, M. | +104

8

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial

enthalten in: The Lancet. Neurology | 2022

von Mercuri, E. | Deconinck, N. | Mazzone, E. | +121

CommentOn: Lancet Neurol. 2022 Jan;21(1):23-24. - PMID 34942130

9

The Genetic Landscape of Mitochondrial Diseases in Spain : A Nationwide Call

enthalten in: Genes | 2021

von Bellusci, M. | Paredes-Fuentes, A. | Ruiz-Pesini, E. | +105

10

Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency

enthalten in: Orphanet journal of rare diseases | 2021

von Domínguez-González, C. | Madruga-Garrido, M. | Hirano, M. | +9

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