Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

61

COVID-19 in children with neuromuscular disorders

enthalten in: Journal of neurology | 2021

von Natera-de Benito, D. | Aguilera-Albesa, S. | Costa-Comellas, L. | +27

62

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

enthalten in: Anales de pediatria | 2020

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

63

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

enthalten in: Acta neuropathologica | 2020

von García-Cazorla, �. | Verdura, E. | Juliá-Palacios, N. | +35

64

Publisher Correction : Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

enthalten in: Scientific reports | 2020

von Milev, M. | Stanga, D. | Schänzer, A. | +16

ErratumFor: Sci Rep. 2019 Oct 1;9(1):14036. - PMID 31575891

65

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

66

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Töpf, A. | Johnson, K. | Bates, A. | +97

67

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

enthalten in: Brain : a journal of neurology | 2020

von Alonso-Pérez, J. | González-Quereda, L. | Bello, L. | +57

ErratumIn: Brain. 2023 Jan 5;146(1):e9. - PMID 36327125

68

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

enthalten in: Scientific reports | 2020

von Dominguez-Gonzalez, C. | Badosa, C. | Madruga-Garrido, M. | +23

69

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

enthalten in: Genes | 2020

von Gonzalez-Quereda, L. | Rodriguez, M. | Diaz-Manera, J. | +19

70

Epilepsy in LAMA2-related muscular dystrophy : An electro-clinico-radiological characterization

enthalten in: Epilepsia | 2020

von Natera-de Benito, D. | Muchart, J. | Itzep, D. | +18