Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

51

CACNA1A Mutations Causing Early Onset Ataxia : Profiling Clinical, Dysmorphic and Structural-Functional Findings

enthalten in: International journal of molecular sciences | 2021

von Martínez-Monseny, A. | Edo, A. | Casas-Alba, D. | +11

52

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

enthalten in: International journal of molecular sciences | 2021

von Yubero, D. | Natera-de Benito, D. | Pijuan, J. | +10

53

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

enthalten in: Neurology | 2021

von Natera-de Benito, D. | Foley, A. | Domínguez-González, C. | +27

54

Pediatric SMA patients with complex spinal anatomy : Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2021

von Carrera-García, L. | Muchart, J. | Lazaro, J. | +9

ErratumIn: Eur J Paediatr Neurol. 2022 Mar;37:167-168. - PMID 34429249

55

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

enthalten in: Pediatric neurology | 2021

von Natera-de Benito, D. | Ortez, C. | Jou, C. | +13

56

Translational Diagnostics : An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

enthalten in: The Journal of molecular diagnostics : JMD | 2021

von Pijuan, J. | Rodríguez-Sanz, M. | Natera-de Benito, D. | +12

57

COVID-19 in children with neuromuscular disorders

enthalten in: Journal of neurology | 2021

von Natera-de Benito, D. | Aguilera-Albesa, S. | Costa-Comellas, L. | +12

58

COVID-19 in children with neuromuscular disorders

enthalten in: Journal of neurology | 2021

von Natera-de Benito, D. | Aguilera-Albesa, S. | Costa-Comellas, L. | +12

59

COVID-19 in children with neuromuscular disorders

enthalten in: Journal of neurology | 2021

von Natera-de Benito, D. | Aguilera-Albesa, S. | Costa-Comellas, L. | +12

60

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

enthalten in: Frontiers in neurology | 2021

von Alonso-Jiménez, A. | Fernández-Simón, E. | Natera-de Benito, D. | +18