Inés Albájar
A5080774467- Intracerebral and Subarachnoid Hemorrhage Research
- Genetic Neurodegenerative Diseases
- Electroconvulsive Therapy Studies
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Treatment of Major Depression
- Psychosomatic Disorders and Their Treatments
- Hemoglobinopathies and Related Disorders
- Neuroscience of respiration and sleep
- Neurosurgical Procedures and Complications
- Traumatic Brain Injury and Neurovascular Disturbances
- Bipolar Disorder and Treatment
- Acute Ischemic Stroke Management
- Takotsubo Cardiomyopathy and Associated Phenomena
- Vestibular and auditory disorders
- Prion Diseases and Protein Misfolding
- Intensive Care Unit Cognitive Disorders
- Muscle Physiology and Disorders
- Cervical and Thoracic Myelopathy
- Intracranial Aneurysms: Treatment and Complications
- Alzheimer's disease research and treatments
- Spine and Intervertebral Disc Pathology
- Spinal Fractures and Fixation Techniques
- Hearing, Cochlea, Tinnitus, Genetics
- RNA modifications and cancer
Biogipuzkoa Health Research Institute
2021-2024
Osakidetza
2021-2024
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Abstract Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 ( FGF14 ) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed study frequency phenotype of SCA27B a cohort patients with unsolved late‐onset cerebellar (LOCA). also assessed relative other genetically defined LOCAs. Methods recruited consecutive series 107 LOCA, whom 64 remained undiagnosed. screened these for expansion. next analysed forms LOCA...
Background: The transmission of amyloid β (Aβ) in humans leading to iatrogenic cerebral angiopathy (iCAA) is a novel concept with analogies prion diseases. However, the number published cases low, and larger international studies are missing. Aims: We aimed build large multinational collaboration on iCAA better understand clinical spectrum affected patients. Methods: collected data patients from Austria, Croatia, Italy, Slovenia, Spain. Patients were included if they met proposed Queen...
Abstract Background Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 ( RFC1 ) gene were identified as leading cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Patients exhibit significant clinical heterogeneity and variable disease course, but no potential biomarker has been to date. Objectives In this multicenter cross‐sectional study, we aimed evaluate neurofilament light (NfL) chain serum levels a cohort patients correlate NfL...
The COVID19 pandemic collapsed intensive care units (ICUs) all around the world, conditioning systems of (SOC) for other critical conditions such as severe ischemic stroke requiring endovascular treatment (EVT). Our aim was to evaluate impact an adaptive Stroke Unit (SU) based SOC on functional outcomes, with goal avoiding both general anesthesia (GA) and ICU admission in patients treated EVT.We performed observational study comparing data from our traditional ICU-GA SU-Conscious Sedation...