Tania García‐Sobrino
A5028344035- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Nerve injury and regeneration
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease and Spinal Disorders
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Long-Term Effects of COVID-19
- Neurogenetic and Muscular Disorders Research
- Peripheral Nerve Disorders
- Autoimmune Neurological Disorders and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Monoclonal and Polyclonal Antibodies Research
- Folate and B Vitamins Research
- RNA regulation and disease
- Parkinson's Disease Mechanisms and Treatments
- Neuroscience and Neuropharmacology Research
- Infectious Encephalopathies and Encephalitis
- Cytomegalovirus and herpesvirus research
- Antifungal resistance and susceptibility
- Multiple Sclerosis Research Studies
- Child Nutrition and Feeding Issues
- Signaling Pathways in Disease
Complejo Hospitalario Universitario de Santiago
2013-2025
University of Milano-Bicocca
2022
Erasmus MC
2022
Aarhus University Hospital
2022
Complexo Hospitalario Universitario A Coruña
2021
Centro de Investigación Biomédica en Red
2020
Centre for Biomedical Network Research on Rare Diseases
2020
Hospital de Sant Pau
2020
Biomedical Research Networking Center on Neurodegenerative Diseases
2020
Universitat Autònoma de Barcelona
2020
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...
<h3>Background and Objectives</h3> Infections play a key role in the development of Guillain-Barré syndrome (GBS) have been associated with specific clinical features disease severity. The variation GBS across geographical regions has suggested to be related differences distribution preceding infections, but this not studied on large scale. <h3>Methods</h3> We analyzed first 1,000 patients included International Outcome Study available biosamples (n = 768) for presence recent infection...
<h3>Objective</h3> To define the current treatment practice of Guillain-Barré syndrome (GBS). <h3>Methods</h3> The study was based on prospective observational data from first 1,300 patients included in International GBS Outcome Study. We described general, and for (1) severe forms (unable to walk independently), (2) no recovery after initial treatment, (3) treatment-related fluctuations, (4) mild (able (5) variant including Miller Fisher syndrome, taking patient characteristics hospital...
To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS).
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....
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, target antigens remain unknown substantial proportion GBS patients. The objective this study to screen for targeting peripheral nerve components syndrome. Methods Autoantibody screening was performed serum samples from all patients included International Outcome by 11 different Spanish centres....
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...
Abstract Guillain-Barré syndrome is an acute polyradiculoneuropathy in which preceding infections often elicit the production of antibodies that target peripheral nerve antigens, principally gangliosides. Anti-ganglioside are thought to play a key role clinical diversity disease and can be helpful practice. Extensive research into associations individual anti-ganglioside antibody specificities has been performed. Recent highlighted glycolipid complexes, combinations may alter binding, as...
Background: Malnutrition in amyotrophic lateral sclerosis (ALS) is associated with disease severity, and epigenetic regulation may be involved. The aim of this study was to assess the methylation levels specific DNA sequences from nuclear mitochondrial genomes a population ALS elucidate their relationship nutritional status evolution disease. Methods: Patients were evaluated between 2013 2021 (n = 66). They categorized according status, using Global Leadership Initiative on (GLIM) criteria,...
Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare most Western countries but not so certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed clinical and genetic characteristics patients with across Spain. 99 were identified, which distributed Spain, especially Northwest regions. The common genotypes p.R120W (in 81% autosomal dominant inheritance) p.Q163X 73% recessive patients)....
To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part International GBS Outcome Study (IGOS).Prospectively clinical and EDx data were available 957 IGOS from 115 centers. Only first study was included current analysis.Median timing 7 days (interquartile range 4-11) symptom onset. Methodology varied between centers, countries regions. Reference values responding 103 centers derived locally 49%, publications 37% a...
Background Mutations in the metalloendopeptidase ( MME ) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants linked to other late-onset dominant polyneuropathies. Thus, our goal was define phenotype and mode inheritance patients carrying changes . Methods We screened 197 index cases with hereditary neuropathy CMT or distal motor (dHMN) 10 probands familial amyotrophic lateral sclerosis (fALS) using custom panel...
MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim this work was to determine the frequency and distribution these throughout Spain, provide comprehensive phenotypical description and, if possible, establish genotype-phenotype correlation.Retrospectively, data on patients diagnosed with CMT2Z in Spain were collected clinical, electrophysiological muscle imaging information analysed.Fifteen identified seven them belonging single kindred,...
Abstract Background and purpose The aim of this study was to describe the frequency distribution SOD1 mutations in Spain, explore factors contributing their phenotype prognosis. Methods Seventeen centres shared data on amyotrophic lateral sclerosis (ALS) patients carrying pathogenic or likely variants. Multivariable models were used prognostic modifiers. Results In 144 (from 88 families), 29 (26 missense, 2 deletion/insertion 1 frameshift) found all five exons , including seven novel...
ABSTRACT Objective To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS). Methods We measured NfL using SiMoA (98 samples) and CSF (24 of GBS patients prospectively included the International Outcome Study (IGOS) Spain compared them with controls (HC). performed multivariable regression to analyze association between sNfL functional outcome at one year. Results had higher than HC (55.49pg/mL vs 9.13pg/mL, p<0,0001)...
A bstract Guillain-Barré Syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation and pathogenesis. Serum antibodies against various gangliosides can be found in less than half of all patients the phase GBS but target antigens remain unknown for remaining half. Our work describes comprehensive screening serum autoantibodies targeting peripheral nerve tissue, cells, purified prospective cohort including 100 patients. study confirms that (1) display very repertoire...