Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

71

Clinical presentation and proteomic signature of patients with TANGO2 mutations

enthalten in: Journal of inherited metabolic disease | 2020

von Mingirulli, N. | Pyle, A. | Hathazi, D. | +40

72

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

enthalten in: Frontiers in neurology | 2020

von Trifunov, S. | Natera-de Benito, D. | Exposito Escudero, J. | +7

73

Clinical presentation and proteomic signature of patients with TANGO2 mutations

enthalten in: Journal of Inherited Metabolic Disease | 2020

von Mingirulli, N. | Pyle, A. | Hathazi, D. | +40

74

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

enthalten in: Scientific reports | 2019

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

ErratumIn: Sci Rep. 2020 Nov 10;10(1):19770. - PMID 33173071

75

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

enthalten in: Molecular genetics and metabolism | 2019

von Fernández-Simón, E. | Carrasco-Rozas, A. | Gallardo, E. | +36

76

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

enthalten in: Neurology(R) neuroimmunology & neuroinflammation | 2019

von Carrera-García, L. | Natera-de Benito, D. | Lleixà, C. | +7

77

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

von Domínguez-González, C. | Madruga-Garrido, M. | Mavillard, F. | +24

78

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

enthalten in: Scientific reports | 2019

von Xiol, C. | Vidal, S. | Pascual-Alonso, A. | +108

79

Identification of serum microRNAs as potential biomarkers in Pompe disease

enthalten in: Annals of clinical and translational neurology | 2019

von Carrasco-Rozas, A. | Fernández-Simón, E. | Lleixà, M. | +38

ErratumIn: Ann Clin Transl Neurol. 2022 Jun;9(6):897. - PMID 35665494

80

CHRNG-related nonlethal multiple pterygium syndrome : Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

enthalten in: American journal of medical genetics. Part A | 2019

von Carrera-García, L. | Natera-de Benito, D. | Dieterich, K. | +19