Search Results - "Pedrosa, Irene"
-
1
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Published in Annals of neurology (01-05-2021)“…Objective Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and…”
Get full text
Journal Article -
2
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function
Published in PloS one (06-10-2016)“…Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease…”
Get full text
Journal Article -
3
Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles
Published in Journal of cachexia, sarcopenia and muscle (01-08-2020)“…Background Late‐onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of…”
Get full text
Journal Article -
4
Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients
Published in Frontiers in neurology (01-03-2021)“…Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted…”
Get full text
Journal Article -
5
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease
Published in Frontiers in neurology (08-07-2021)“…Quantitative MRI is an increasingly used method to monitor disease progression in muscular disorders due to its ability to measure changes in muscle fat…”
Get full text
Journal Article -
6
Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests
Published in Frontiers in neurology (16-03-2021)“…Magnetization transfer (MT) imaging exploits the interaction between bulk water protons and protons contained in macromolecules to induce signal changes…”
Get full text
Journal Article -
7
-
8
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
Published in Frontiers in neurology (11-06-2021)“…Introduction: Duchenne (DMD) and Becker (BMD) muscular dystrophy are X-linked muscular disorders produced by mutations in the DMD gene which encodes the…”
Get full text
Journal Article -
9
Update in Diagnostics of Toscana Virus Infection in a Hyperendemic Region (Southern Spain)
Published in Viruses (23-07-2021)“…The sandfly fever Toscana virus (TOSV, genus , family ) is endemic in Mediterranean countries. In Spain, phylogenetic studies of TOSV strains demonstrated that…”
Get full text
Journal Article -
10
Phylogenetic Analysis of the 2020 West Nile Virus (WNV) Outbreak in Andalusia (Spain)
Published in Viruses (05-05-2021)“…During recent decades West Nile Virus (WNV) outbreaks have continuously occurred in the Mediterranean area. In August 2020 a new WNV outbreak affected 71…”
Get full text
Journal Article -
11
Identification of serum microRNAs as potential biomarkers in Pompe disease
Published in Annals of clinical and translational neurology (01-07-2019)“…Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in…”
Get full text
Journal Article -
12
Evaluation of a Trio Toscana Virus Real-Time RT-PCR Assay Targeting Three Genomic Regions within Nucleoprotein Gene
Published in Pathogens (Basel) (24-02-2021)“…Toscana virus (TOSV) can cause central nervous system infections in both residents of and travelers to Mediterranean countries. Data mining identified three…”
Get full text
Journal Article -
13
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
Published in Neuromuscular disorders : NMD (01-10-2024)“…•Respiratory impairment is present in up to one-third-of patients with dysferlinopathy.•Spirometry is the gold standard for diagnosis and monitoring of…”
Get full text
Journal Article -
14
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Published in Molecular genetics and metabolism (01-09-2019)“…Late onset Pompe disease (LOPD) is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are…”
Get full text
Journal Article -
15
Development and Preliminary Evaluation of a Rapid Oligochromatographic Assay for Specific Detection of New Human Influenza A H1N1 Virus
Published in Journal of Clinical Microbiology (01-05-2010)“…A new oligochromatographic assay, Speed-Oligo Novel Influenza A H1N1, was designed and optimized for the specific detection of the 2009 influenza A H1N1 virus…”
Get full text
Journal Article -
16
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study
Published in Scientific reports (18-07-2018)“…Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT)…”
Get full text
Journal Article -
17
Quantitative muscle MRI in Pompe disease: A 4 years follow-up study
Published in Molecular genetics and metabolism (01-02-2019)Get full text
Journal Article -
18
Anti-rh-GAA antibodies does not influence late onset Pompe disease progression
Published in Molecular genetics and metabolism (01-02-2018)Get full text
Journal Article -
19
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
Published in Frontiers in neurology (10-03-2022)“…Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported…”
Get full text
Journal Article -
20
PDGF-BB serum levels are decreased in adult onset Pompe patients
Published in Scientific reports (14-02-2019)“…Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated…”
Get full text
Journal Article