Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

1

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency : long-term follow-up after treatment

enthalten in: European journal of human genetics : EJHG | 2024

von Cascajo-Almenara, M. | Juliá-Palacios, N. | Urreizti, R. | +23

2

The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

enthalten in: bioRxiv.org | 2024

von Foley, A. | Bolduc, V. | Guirguis, F. | +66

3

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy : Towards clinical trial readiness for splice-modulating therapy

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Foley, A. | Bolduc, V. | Guirguis, F. | +66

4

Clinical and Genetic Analysis of Patients With TK2 Deficiency

enthalten in: Neurology. Genetics | 2024

von Ceballos, F. | Serrano-Lorenzo, P. | Bermejo-Guerrero, L. | +17

5

Improving Diagnostic Precision : Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

enthalten in: Journal of neuromuscular diseases | 2024

von Estévez-Arias, B. | Matalonga, L. | Martorell, L. | +13

6

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2024

von Baranello, G. | Neurodevelopment in SMA Working Group | Roy, S. | +55

7

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

8

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

9

Gene therapy : Where are we? Where are we going?

enthalten in: Medicina | 2023

von Expósito, J. | Natera, D. | Carrera, L. | +4

10

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

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