Suchergebnisse - "Nascimento, Andrés"

PubPharm (167)

81

PLA2G6-associated neurodegeneration : New insights into brain abnormalities and disease progression

enthalten in: Parkinsonism & related disorders | 2019

von Darling, A. | Aguilera-Albesa, S. | Tello, C. | +23

82

PDGF-BB serum levels are decreased in adult onset Pompe patients

enthalten in: Scientific reports | 2019

von Fernández-Simón, E. | Carrasco-Rozas, A. | Gallardo, E. | +41

83

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

enthalten in: Journal of clinical medicine | 2019

von Jou, C. | Ortigoza-Escobar, J. | O'Callaghan, M. | +23

84

Advances in the treatment of Duchenne muscular dystrophy

enthalten in: Medicina | 2019

von Ortez, C. | Natera de Benito, D. | Carrera García, L. | +3

85

Diagnosis and treatment of congenital myopaties

enthalten in: Medicina | 2019

von Natera de Benito, D. | Ortez, C. | Carrera García, L. | +3

86

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

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2019

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

87

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

enthalten in: Annals of Neurology | 2019

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

88

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction : A 3-Year Follow-up of a Child Patient

enthalten in: Journal of clinical neuromuscular disease | 2018

von Natera-de Benito, D. | Berciano, J. | García, A. | +3

89

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

enthalten in: EMBO molecular medicine | 2018

von Thompson, K. | Mai, N. | Oláhová, M. | +22

90

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases : systematic review and hospital experience

enthalten in: Journal of inherited metabolic disease | 2018

von Batllori, M. | Molero-Luis, M. | Ormazabal, A. | +14