Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

31

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

32

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

enthalten in: International journal of molecular sciences | 2022

von López-Márquez, A. | Morín, M. | Fernández-Peñalver, S. | +10

33

Corrigendum to "Pediatric SMA patients with complex spinal anatomy : Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2022

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

ErratumFor: Eur J Paediatr Neurol. 2021 Mar;31:92-101. - PMID 33711792

34

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

enthalten in: Stem cell research | 2022

von Hernández-Ainsa, C. | Nascimento, A. | Jou, C. | +4

35

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM) : A Case Series and Biopsy Report

enthalten in: Journal of neuromuscular diseases | 2022

von Molera, C. | Sarishvili, T. | Nascimento, A. | +11

36

Tick-borne encephalitis. Description of the first imported case in Spain in a paediatric patient

enthalten in: Anales de pediatria | 2022

von Izurieta-Pacheco, A. | Nou-Fontanet, L. | Nascimento, A. | +2

37

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

enthalten in: Frontiers in neuroscience | 2022

von Pijuan, J. | Cantarero, L. | Natera-de Benito, D. | +9

38

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

39

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

enthalten in: Frontiers in bioengineering and biotechnology | 2022

von Almici, E. | Chiappini, V. | López-Márquez, A. | +10

40

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