A5038154396- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- RNA Research and Splicing
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Nuclear Structure and Function
- Neurological diseases and metabolism
- Congenital Anomalies and Fetal Surgery
- Myasthenia Gravis and Thymoma
- Genetics and Neurodevelopmental Disorders
- Amyotrophic Lateral Sclerosis Research
- Tissue Engineering and Regenerative Medicine
- Hereditary Neurological Disorders
- MicroRNA in disease regulation
- Muscle metabolism and nutrition
- Glycogen Storage Diseases and Myoclonus
- Trace Elements in Health
- Mechanical Circulatory Support Devices
- Retinopathy of Prematurity Studies
- Behavioral Health and Interventions
- Autoimmune Neurological Disorders and Treatments
- Transcranial Magnetic Stimulation Studies
Hospital Sant Joan de Déu Barcelona
2018-2025
Institut de Recerca Sant Joan de Déu
2019-2024
Centre for Biomedical Network Research on Rare Diseases
2019-2024
Instituto de Salud Carlos III
2019-2024
Sant Joan de Déu Research Foundation
2023
Centre for Cellular and Molecular Biology
2023
Centre for DNA Fingerprinting and Diagnostics
2023
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Universitat de Barcelona
1997-2019
Abstract Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was assess the construct validity responsiveness several outcome measures adult SMA patients. Methods Patients older than 15 years followed up five referral centres for at least 6 months, between October 2015 August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper...
Objective We report natural history data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE). The aim study was to establish annual rate and possible patterns progression according number variables, such as age onset, at assessment, SMN2 copy number, functional status. Methods HFMSE longitudinal changes were piecewise linear mixed‐effects models. dependency due repeated measures accounted for by...
Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and ultimately fatal. Recently approved treatments targeting the cause of DMD are limited to specific subpopulations patients, highlighting need for therapies with wider applications. Pharmacologic inhibition myostatin, an endogenous inhibitor growth produced almost exclusively in skeletal muscle, has been shown increase mass several species, including humans. Taldefgrobep alfa anti-myostatin...
The aim was to assess the safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.Patients older than 15 years followed for at least 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb Module, RULM) five referral centers were included. clinical patients' global impression change (CGI-C PGI-C) recorded treated patients last visit. scales (Egen Klassification, EK2; Amyotrophic Lateral Sclerosis Rating Scale,...
Mitochondrial network is constantly in a dynamic and regulated balance of fusion fission processes, which known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane the cell thus impacting cellular functions. Mutations dynamics genes are to cause neurogenetic diseases. To better understand consequences on phenotype pathophysiology diseases associated defective dynamics, we have compared fibroblasts phenotypes (i) patients carrying pathogenic...
Abstract Duchenne muscular dystrophy (DMD) and spinal atrophy (SMA) are neuromuscular diseases that lead to progressive muscle degeneration weakness. Recent therapeutic advances for DMD SMA highlight the need accurate clinical evaluation. Traditionally, motor function of upper limbs is assessed using scales. However, these scales influenced by clinician’s interpretation may lack accuracy. For this reason, clinicians becoming interested in finding alternative solutions. In context, Inertial...
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution etiologies across neuromuscular spectrum comparing myogenic neurogenic subtypes. Methods A total 105 AMC were clinically genetically evaluated in single‐center study. Participants stratified based primary site involvement, further classification was performed for cases into Genetic diagnoses made through using range...
Abstract Objective To delineate the epileptic phenotype of LAMA2 ‐related muscular dystrophy (MD) and correlate it with neuroradiological muscle biopsy findings, as well functional motor phenotype. Methods Clinical, electrophysiological, neuroradiological, histopathological data 25 patients diagnosis MD were analyzed. Results Epilepsy occurred in 36% MD. Mean age at first seizure was 8 years. The most common presenting type focal‐onset seizures or without impaired awareness. Visual aura...
Our objective was to investigate the potential of three microRNAs, miR-181a-5p, miR-30c-5p, and miR-206 as prognostic biomarkers for long-term follow up Duchenne muscular dystrophy (DMD) Becker (BMD) patients. We analyzed expression microRNAs in serum 18 patients (DMD 13, BMD 5) 13 controls using droplet digital PCR. Over 4 years a minimum two maximum measurements were performed at different time points same patient. Correlations between microRNA levels, age, functional outcome measures...
<h3>Objective</h3> To accurately categorize the phenotypes of individuals with collagen VI–related dystrophies (COL6-RDs) during first years life to predict long-term motor function and pulmonary function, provide phenotype-specific anticipatory care, improve clinical trial readiness. <h3>Methods</h3> This retrospective, multicenter, international study analyzed relationship initial maximal ability achieved in COL6-RD. <h3>Results</h3> We studied 119 patients COL6-RD from Spain (n = 54)...
Background: Laminopathies are caused by rare alterations in LMNA , leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different each patient. We investigated variability laminopathy phenotypes performing targeted genetic analysis of patients diagnosed with -related identify variants alternative genes, thereby explaining phenotypic differences. Methods: analyzed 105 genes associated diseases sequencing 26 pediatric countries, any...
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss (EDMD), limb–girdle type 1B (LGMD1B), and congenital (L-CMD). Heart failure, malignant arrhythmias, sudden death may occur. No consensus exists on cardiovascular management in pediatric laminopathies. The aim was to perform an exhaustive cardiologic follow-up patients diagnosed with dystrophy. Methods: Baseline cardiac work-up consisted of clinical assessment, transthoracic...
Background: Three therapeutic strategies have radically changed the scenario for spinal muscular atrophy (SMA). However, response differs between individuals. There is a need to identify biomarkers further assess and better understand which variables determine extent of response. Methods: We conducted study using an optimized digital droplet PCR-based method ultra-sensitive detection SMN transcript in serum EVs from SMA 2 individuals treated with nusinersen over 14 months. In parallel, we...
Abstract Background and purpose Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene mutations. Although studies on available disease‐modifying treatments have reported their efficacy safety, long‐term natural history data are lacking for comparison. The aim of this prospective study was to report 4‐year changes the Hammersmith Functional Motor Scale Expanded (HFMSE) in type II III SMA relation several variables such as age, functional status SMN2 copy number. Methods...
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing a phenotype-driven analysis of genomic data, that led to molecular diagnosis in child with CM. identified heterozygous variant RYR1 affected child, inherited from her asymptomatic mother. Given alignment phenotype RYR1-CM, we considered potential existence missing second trans...
Context. Active galactic nuclei (AGNs) are very luminous galaxies from the ultraviolet (UV) to far infrared (FIR). To study regions near core, which dominated by dust, IR is perfect spectral range because of lower optical depth dust. However, these usually distant, and structures core faint compared central source. High resolution high contrast mandatory inner AGNs better understand interaction between its surroundings.