A5056724690- Cytomegalovirus and herpesvirus research
- Epilepsy research and treatment
- Diet and metabolism studies
- Therapeutic Uses of Natural Elements
- Autoimmune Neurological Disorders and Treatments
- Infectious Encephalopathies and Encephalitis
- Genetic Neurodegenerative Diseases
- Polyomavirus and related diseases
- RNA regulation and disease
- Neurological Complications and Syndromes
- Muscle Physiology and Disorders
- Neonatal Health and Biochemistry
- Glioma Diagnosis and Treatment
- Herpesvirus Infections and Treatments
- Metabolism and Genetic Disorders
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Viral Infections and Immunology Research
- Pituitary Gland Disorders and Treatments
Hospital Universitario 12 De Octubre
2016-2023
Hospital Universitario del Tajo
2017
Centro de Investigación Biomédica en Red
2017
Biomedical Research Networking Center on Neurodegenerative Diseases
2017
University of California, San Francisco
2016
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by weakness and intellectual disability. Methods A clinical histopathological characterisation 25 Roma individuals with R18 caused the homozygous TRAPPC11 c.1287+5G>A variant reported. Functional effects on mitochondrial function were investigated. Results The leads to phenotype early onset...
Enteroviruses are a common cause of aseptic meningitis and mild infections in childhood. However, immunocompromised patients they may severe neurologic conditions such as encephalitis or polio-like paralysis. Acknowledgment: The authors thank the patient his family.
Objective: To investigate the spectrum and frequency of abnormalities on brain magnetic resonance imaging (MRI) in a cohort newborns diagnosed with congenital cytomegalovirus (cCMV) through screening program evaluate risk sensorineural hearing loss, neurodevelopmental disorders, chorioretinitis epilepsy. Methods: A prospective for cCMV by CMV viral load saliva was performed 2017–2018 tertiary center Madrid. Neonatal MRI without sedation all evaluated 2 experienced neuroradiologists. The...
A 13-year-old girl presented acutely with an episode of headache and signs elevated intracranial pressure from a pineal gland tumor causing obstructive hydrocephalus. After endoscopic third ventriculostomy biopsy, she was diagnosed pineoblastoma. She treated surgical resection, craniospinal radiotherapy, subsequent chemotherapy. Brain MRIs were performed every 3 months after surgery remained stable no new lesions or residual tumor. However, follow-up brain MRI 6 chemotherapy showed some...
Abstract Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system, leading to neurological damage attributed overstimulation N-methyl-D-aspartate receptor. Although there are no interventions known be effective altering natural history nonketotic hyperglycinemia, it very important that clinician recognizes this disease and initiates evaluation treatment attain best possible outcome. Here we present newborn...