A5086745960- Muscle Physiology and Disorders
- Cell Adhesion Molecules Research
- Congenital heart defects research
- Nuclear Structure and Function
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- RNA Interference and Gene Delivery
- Genetic Neurodegenerative Diseases
- Tissue Engineering and Regenerative Medicine
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- RNA Research and Splicing
- Stroke Rehabilitation and Recovery
- Osteoarthritis Treatment and Mechanisms
- Hereditary Neurological Disorders
- Calpain Protease Function and Regulation
- scientometrics and bibliometrics research
- Skin and Cellular Biology Research
- Autophagy in Disease and Therapy
- Botulinum Toxin and Related Neurological Disorders
- Meta-analysis and systematic reviews
- Platelet Disorders and Treatments
- Signaling Pathways in Disease
- Diabetes Management and Research
- Cellular transport and secretion
National Institutes of Health
2016-2025
National Institute of Neurological Disorders and Stroke
2016-2025
Oregon Health & Science University
2024
Boston Children's Hospital
2024
Centre for Biomedical Network Research on Rare Diseases
2021
Hospital Sant Joan de Déu Barcelona
2021
Janelia Research Campus
2019
St Mary's University College
2019
University of Cambridge
2019
Howard Hughes Medical Institute
2019
MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype–phenotype spectrum remains to be explored, pathogenic variants in have recently been reported small number of patients presenting with phenotype cerebellar ataxia, congenital muscle involvement histologic findings ranging from myopathic dystrophic and pigmentary retinopathy. The proposed underlying mechanism MSTO1-related disease is suggestive impaired secondary loss function Disorders...
Abstract Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age onset ranging from the neonatal period adulthood. The natural history these conditions is not well defined, particularly patients congenital or early who arguably present highest disease burden. Thus definition endpoints along clinically revelant outcome measures essential establishing both care planning trial readiness for this patient...
While there have been several reports of patients with dominantly acting COL12A1 variants, few cases the more severe recessive Collagen XII-related disorders previously documented. We present detailed clinical, immunocytochemical, and imaging data on eight additional from seven families biallelic pathogenic variants in COL12A1. All presented a consistent constellation congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint...
Collagen VI-related disorders (COL6-RDs) are a group of rare muscular dystrophies caused by pathogenic variants in collagen VI genes (COL6A1, COL6A2, and COL6A3). type is heterotrimeric, microfibrillar component the muscle extracellular matrix (ECM), predominantly secreted resident fibroadipogenic precursor cells skeletal muscle. The absence or mislocalization ECM underlies noncell-autonomous dysfunction dystrophic changes with yet elusive direct mechanistic link between myofiber...
To better characterize adult myotubularin 1 (MTM1)-related myopathy carriers and recommend a phenotypic classification.This cohort study was performed at the NIH Clinical Center. Participants were required to carry confirmed MTM1 mutation recruited via Congenital Muscle Disease International Registry (n = 8), traveling local clinic of Neuromuscular Neurogenetic Disorders Childhood Section, National Institute Neurological Stroke, Cure CMD 1), direct physician referral 1). examinations, muscle...
<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)...
Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence congenital muscle disease (CMD).Pediatric patients enrolled CMD International Registry (CMDIR) history were included this retrospective review. Hypoglycemic and associated clinical biochemical characteristics characterized.Ten (5 LAMA2-related muscular dystrophy) at least one episode beginning an average age...
Omigapil is a small molecule which inhibits the GAPDH-Siah1-mediated apoptosis pathway. Apoptosis pathomechanism underlying congenital muscular dystrophy subtypes LAMA2-related (LAMA2-RD) and COL6-related (COL6-RD). Studies of omigapil in (dy
Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 COL6A3) encoding extracellular matrix protein collagen VI, DMD is gene cytoplasmic dystrophin. Both characterized infiltration of muscles fatty fibrotic tissue. This study examined effect disease pathology on skeletal lower extremity using timed functional tests, strength measures qualitative/...
Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms limb-girdle with a wide range phenotypic severity. We evaluated consanguineous family clinical phenotype consistent calpainopathy in whom conventional sequencing did not detect any mutations CAPN3 gene. Using whole exome paired haplotype analysis, we identified homozygous deep intronic single base pair deletion...
Muscle strength testing is routine in clinical practice. Here we provide an aid to the documentation and visual conceptualization of those results - MuscleViz: a free, open-source application for visualizing muscle testing. Its use settings streamlines communication physical examination findings. The tool also useful presenting patient data case reports or series. A push towards software has benefitted other areas science; believe similar effort dedicated development tools worth pursuing.
To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness.
Abstract Objective FHL1 ‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, MRI, and cardiac MRI findings in patients. Methods Seventeen patients (11 male, mean age 35.4, range 12–76 years) from nine independent families with underwent clinical evaluation, ultrasound ( n = 11/17), lower extremity 14/17), including Dixon 6/17). Muscle echogenicity was graded using a modified Heckmatt scale. T1...
Abstract Collagen VI-related disorders ( COL6 -RDs) are a group of rare muscular dystrophies caused by pathogenic variants in collagen VI genes COL6A1, COL6A2, and COL6A3 ). type is heterotrimeric, microfibrillar component the muscle extracellular matrix (ECM), predominantly secreted resident fibroadipogenic precursor cells skeletal muscle. The absence or mislocalizatoion ECM underlies non-cell autonomous dysfunction dystrophic changes with an as yet elusive direct mechanistic link between...
Congenital muscular dystrophies (CMD) are amongst the most common early onset neuromuscular disorder that results in progressive weakness of skeletal, and respiratory muscles. Current methods based on breathing tests not able to accurately characterize muscle involvement. We examine diaphragm chest wall dynamics using cine magnetic resonance imaging (MRI). propose a holistic neural network handle segmentation lungs poor quality MR images develop knowledge-based method extract from image. The...