Carmen Paradas
A5003199280- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Glycogen Storage Diseases and Myoclonus
- Nutrition and Health in Aging
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Nuclear Structure and Function
- Biochemical and Molecular Research
- Lysosomal Storage Disorders Research
- Ubiquitin and proteasome pathways
- Amyotrophic Lateral Sclerosis Research
- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Adipose Tissue and Metabolism
- RNA Research and Splicing
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- Myasthenia Gravis and Thymoma
- RNA regulation and disease
- Neurological diseases and metabolism
- Muscle activation and electromyography studies
- Body Composition Measurement Techniques
- Genetics and Neurodevelopmental Disorders
Hospital Universitario Virgen del Rocío
2016-2025
Universidad de Sevilla
2015-2025
Instituto de Salud Carlos III
2013-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2015-2025
Instituto de Biomedicina de Sevilla
2016-2025
Centro de Investigación Biomédica en Red
2013-2023
Centre for Life
2023
Johns Hopkins University
2023
University of North Dakota
2023
University of Michigan
2023
Mitochondrial function is modulated by its interaction with the endoplasmic reticulum (ER). Recent research indicates that these contacts are disrupted in familial models of amyotrophic lateral sclerosis (ALS). We report here this impairment crosstalk between mitochondria and ER impedes use glucose-derived pyruvate as mitochondrial fuel, causing a shift to fatty acids sustain energy production. Over time, deficiency alters electron flow active/dormant status complex I spinal cord tissues,...
To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).This observational cross-sectional multicenter study was based on information in neurologist-driven Spanish Registry Neuromuscular Diseases (NMD-ES). All were >18 years age at onset MG and occurred between 2000 2016 all cases. Patients classified into 3 subgroups: early-onset (age <50 years), late-onset (onset ≥50 <65 ≥65 years). Demographic, immunologic, clinical, therapeutic data reviewed.A total 939...
Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous imaging studies describe selective pattern involvement smaller patient cohorts, but large study across entire spectrum dysferlinopathies had not been performed previous findings were correlated with functional tests. Methods We present cross-sectional T1-weighted MRI data from 182 patients genetically confirmed dysferlinopathies. have analysed muscles involved disease...
Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood progressing relentlessly. We investigated safety efficacy deoxynucleoside monophosphate therapies.We administered monophosphates to 16 TK2-deficient patients under compassionate use program.In 5 with early onset severe disease, survival...
<h3>Objective:</h3> To describe the baseline clinical and functional characteristics of an international cohort 193 patients with dysferlinopathy. <h3>Methods:</h3> The Clinical Outcome Study for dysferlinopathy (COS) is multicenter study this disease, evaluating genetically confirmed over 3 years. We present a cross-sectional analysis derived from their assessments. <h3>Results:</h3> There high degree variability in disease onset, pattern weakness, rate progression. No factor, such as...
Research Article10 October 2016Open Access Source DataTransparent process A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss Emilia Servián-Morilla Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad Spain Centro Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Search for more papers by this author Hideyuki Takeuchi...
Prognosis of myasthenia gravis (MG) in patients with thymoma is not well established. Moreover, it clear whether recurrence or unresectable lesions entail a worse prognosis MG.This multicenter study was based on data from Spanish neurologist-driven MG registry. All were aged >18 years at onset and had anti-acetylcholine receptor antibodies. We compared the clinical thymomatous nonthymomatous patients. recurrent nonresectable thymomas assessed.We included 964 15 hospitals; 148 (15.4%)...
Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. consenting process covers other uses, such as research, cohort finding trial readiness. Results has three-layered datasets, with European Commission-mandated elements (EU-CDEs), a set of cross-neuromuscular (NMD-CDEs) dataset disease-specific...
<b>Background:</b> The most frequent phenotypes of dysferlin myopathy are limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi (MM). Our objective was to find clinical or MRI markers differentiate regardless initial symptoms. <b>Methods:</b> This retrospective study included 29 patients with confirmed mutations in the <i>DYSF</i> gene (14 MM, 12 LGMD2B, 1 asymptomatic hyperCKemia, 2 symptomatic carriers). All underwent an annual examination (Medical Research Council scale), functional...
A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). We assessed its frequency 781 sporadic ALS (sALS) and 155 familial (fALS) cases, 248 Spanish controls. tested the presence of reported founder haplotype among mutation carriers 171 Ceph Europeans from Utah (CEU), 170 Yoruba Africans, 81 Han Chinese, 85 Japanese subjects. The C9orf72 was present 27.1% fALS 3.2% sALS. Mutation...
Abstract Objective To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) to determine effectiveness side effects of drugs used for their treatment. Methods This observational retrospective cross‐sectional multicenter study was based on data from Spanish MG Registry (NMD‐ES). Patients were considered when Foundation America post‐interventional status (MGFA‐PIS) unchanged or worse after corticosteroids two more other immunosuppressive agents....
Valosin-containing protein (VCP) disease, caused by mutations in the
Abstract Background Between 8% and 22% of female carriers DMD mutations exhibit clinical symptoms variable severity. Development in mutation without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression the mutant allele. However prognostic use XCI analysis is controversial. We aimed evaluate correlation between development a series symptomatic dystrophinopathy. Methods reviewed clinical, pathological genetic features...
The objective of this retrospective study was to describe the short- and long-term patterns IVIg use, safety, response treatment in patients with chronic inflammatory demyelinating polyneuropathy (CIDP).Response therapy defined as an improvement ≥ 1 point on modified Rankin score at mid-term visits. Patient status long term classified remission, stability, or non-responder.Eighty-six were included; 60.5% responded short 54.6% mid-term. At term, 25.6% 65.1% stable, 9.3% non-responders. only...
The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with acute onset fluctuating neurological signs brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition this new clinical entity is needed to facilitate diagnosis.To the progression intermediate discuss genotype-phenotype correlations.Clinical, biochemical,...
Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts patients with OPMD, but larger imaging studies not been performed. too to be able correlate findings clinical data. Methods We present cross-sectional, T1-weighted muscle MRI CT-scan data from 168 genetically confirmed OPMD. analysed pattern involvement disease...
<h3>Background and Objectives</h3> Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan Spanish replication cohort using polygenic scores. <h3>Methods</h3> Participant samples from University of were genotyped assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. Final size was 219 223 healthy controls after genotyping participant filtering. Polygenic scores...
Proline substitutions within the coiled-coil rod region of β-myosin gene (MYH7) are predominant mutations causing Laing distal myopathy (MPD1), an autosomal dominant disorder characterized by progressive weakness distal/proximal muscles. We report that MDP1 mutation R1500P, studied in what we believe to be first mouse model for disease, adversely affected myosin motor activity despite being structural domain directs thick filament assembly. Contractility experiments carried out on isolated...
ABSTRACT Aims To identify potential image biomarkers of neuromuscular disease by analysing morphological and network‐derived features in skeletal muscle biopsies from a murine model amyotrophic lateral sclerosis (ALS), the SOD1 G93A mouse wild‐type (WT) controls at distinct stages progression. Methods Using NDICIA computational framework, we quantitatively evaluated histological differences between WT mice. The process involved selection subset revealing these differences. A discriminative...
To describe two symptomatic dysferlin gene mutation carriers.One patient had limb girdle weakness. His brother was diagnosed with muscular dystrophy 2B mutations in the (D625Y and E1734G). The second distal He sons Miyoshi myopathy a homozygous (G519R). We performed immunofluorescence (dystrophin, DAG proteins, dysferlin, caveolin-3), Western blot (dysferlin, caveolin-3, calpain-3), real-time PCR (dysferlin) using skeletal muscle samples. also studied peripheral blood monocytes (PBMs) by...