A5084823502- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Cell Adhesion Molecules Research
- Muscle Physiology and Disorders
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Peripheral Neuropathies and Disorders
- Caveolin-1 and cellular processes
- Cellular transport and secretion
- Microtubule and mitosis dynamics
- Immunodeficiency and Autoimmune Disorders
- Trypanosoma species research and implications
- Nuclear Structure and Function
- Inflammatory Myopathies and Dermatomyositis
- Acute Ischemic Stroke Management
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Monoclonal and Polyclonal Antibodies Research
- Myofascial pain diagnosis and treatment
- Neurosurgical Procedures and Complications
- Mitochondrial Function and Pathology
- Intracerebral and Subarachnoid Hemorrhage Research
Hospital de Sant Pau
2022-2025
Universitat Autònoma de Barcelona
2022-2025
Charles River Laboratories (United Kingdom)
2024
Centre for Biomedical Network Research on Rare Diseases
2024
Instituto de Salud Carlos III
2024
Centro de Investigación Biomédica en Red
2024
Université Paris-Est Créteil
2024
Abstract Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It highly heterogeneous in its presentation features. Up to 50% of patients MND develop cognitive-behavioural symptoms during the course disease, meeting criteria for FTD 10%–15% cases. In absence precise biomarker, neuropathology still valuable tool understand nosology, reach definite diagnostic confirmation...
Autoantibody discovery in complex autoimmune diseases is challenging. Diverse successful antigen identification strategies are available, but, so far, have often been unsuccessful, especially the of protein antigens which conformational and post-translational modification critical. Our study assesses utility a human membrane secreted microarray technology to detect autoantibodies chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
ABSTRACT Aims Sarcoendoplasmic reticulum Ca 2+ ‐ATPase 2 (SERCA2), encoded by ATP2A2 , is a key protein involved in intracellular homeostasis. The SERCA2a isoform predominantly expressed cardiomyocytes and type I myofibres. Variants this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked myopathy. We describe four patients suffering from novel myopathy caused homozygous missense variant . Methods studied family with individuals...
Immune-mediated necrotizing myopathy (IMNM) caused by antibodies against 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) is an inflammatory that has been epidemiologically correlated with previous statin exposure. We characterized in detail a series of 11 young statin-naïve patients experiencing chronic disease course mimicking limb-girdle muscular dystrophy. With the hypothesis HMGCR upregulation may increase immunogenicity and trigger production autoantibodies, our aim was to...
Background and objective Between 5% 10% of amyotrophic lateral sclerosis (ALS) cases have a family history the disease, 30% which do not an identifiable underlying genetic cause after comprehensive study known ALS-related genes. Based on significantly increased incidence ALS in small geographical region from Spain, aim this work was to identify novel genes with negative testing. Methods We detected both sporadic and, especially, familial Spain compared available demographic epidemiological...
Abstract Background Sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 (SERCA2), encoded by ATP2A2 , is a key protein involved in intracellular homeostasis. The transcript SERCA2a predominantly expressed cardiac muscle and type I myofibers, while SERCA2b ubiquitously including skin cells. To date, variants this gene were reported to be the cause of Darier disease, an autosomal dominant dermatologic disorder, but have never been linked primary skeletal disease. We describe four patients...
Abstract The clinical status and treatment response of patients with peripheral neuropathies (PN) rely on subjective inaccurate scales. Wearable sensors have shown success in evaluating gait balance individuals other neurological disorders. We aimed to explore the ability biomechanical analysis via wearable technology monitor disease activity PN by conducting a single-center, longitudinal study analyze parameters healthy controls using sensors. First, we analyzed sensor’s detect changes...
Multiple sclerosis is a tissue-specific autoimmune disease of the central nervous system in which antigen(s) remains elusive. Antibodies targeting flotillin-1/2 complex have been described 1-2% patients recent study. Other candidate antigens as anoctamin-2 or neurofascin-155 previously multiple patients, although their clinical relevance uncertain. Our study aims to analyse frequency and antibodies against neurofascin-155, sclerosis. Serum (n = 252) CSF 50) samples from 282 were included The...
ABSTRACT Multiple sclerosis (MS) is a tissue-specific autoimmune disease of the central nervous system in which antigen(s) remains elusive. Antibodies targeting flotillin-1/2 (FLOT–1/2) complex have been described 1-2% patients recent study. Other candidate antigens as anoctamin-2 (ANO2) or neurofascin-155 (NF155) previously MS patients, although their clinical relevance uncertain. Our study aims to analyse frequency and antibodies against NF155, ANO2 FLOT-1/2 MS. Serum (n=252) CSF (n=50)...