Explanipedia

Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy Open

Georgia Stimpson, Deborah Ridout, Amy Wolfe, Evelin Milev, Emer O’Reilly , et al. · 2025

Background Corticosteroid (CS) treated boys with DMD display higher rates of height stunting, higher weight gain, improved motor function scores and delayed loss of ambulation compared to untreated patients. However, the relationship betwe…

Behavioral improvement in dystrophic mdx23 mouse following repeated antisense oligonucleotides injections Open

A. Aghaeipour, Mitsogiannis, Claire Fergus, K. Tetorou, Gileadi TE , et al. · 2025

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the DMD gene that disrupt the production of functional dystrophin proteins. Intellectual disability and neurobehavioral complications including aut…

Machine learning predicts treatment response to nusinersen in non-sitter Spinal Muscular Atrophy (SMA). Open

Georgia Stimpson, Emer O’Reilly, Giorgia Coratti, Deborah Ridout, Tapabrata Chakraborti , et al. · 2025

Background Nusinersen has substantially increased survival and improved disease progression in Spinal Muscular Atrophy (SMA) patients. However, treatment response is heterogeneous, with some patients gaining the ability to sit and walk whi…

Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation Open

Francesco Muntoni, James Signorovitch, Michaela Johnson, Andrés Gómez-Liévano, N. Posner , et al. · 2025

We described ambulatory Duchenne muscular dystrophy (DMD) progression, across multiple functional measures, via previously established prognostic groups for loss of ambulation (LoA) and health states. Patients closer to vs. farther from Lo…

Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain Open

K. Tetorou, A. Aghaeipour, Shuang‐Gang Ma, Talia Gileadi, Amel Saoudi , et al. · 2025

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by mutations in the DMD gene, leading to muscle degeneration and shortened life expectancy. Beyond motor symptoms, DMD patients frequently exhibit brain co-morbidit…

Expressive language and social communication abilities in children with spinal muscular atrophy type 1 Open

Chiara Brusa, Bianca Buchignani, C. Cutrì, Giorgia Coratti, Elaine Clark , et al. · 2025

Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study …

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients Open

Veronica Pini, Francesco Catapano, Rosa Bonaccorso, Ben Weisburd, Stefano C. Previtali , et al. · 2025

Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is caused by LAMA2 gene mutations, coding for laminin-211 (merosin) α2 subunit. LAMA2 mutations leading to complete laminin-211 absence result in an invariably severe clinical phen…

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy Open

Valentine Perrain, Christopher J. Record, Mariola Skorupinska, Julian Blake, Joanna Campbell , et al. · 2025

Arthrogryposis multiplex congenita (AMC) is associated with >150 genes, including ADGRG6, which codes for an adhesion G protein-coupled receptor. Biallelic loss of function variants in ADGRG6 have been linked to lethal congenital contractu…

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy Open

Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y. Manzur, Nicolae Done , et al. · 2025

The North Star Ambulatory Assessment (NSAA) is a widely used functional endpoint in drug development for ambulatory patients with Duchenne muscular dystrophy (DMD). Accurately predicting NSAA total score trajectories is important for desig…

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy Open

Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello , et al. · 2025

Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor develop…

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open

Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans , et al. · 2025

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel Open

Justyne Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang , et al. · 2025

Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by cha…

Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C>T Open

A. Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu , et al. · 2025

Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joi…

Fully personalized modelling of Duchenne Muscular Dystrophy ambulation Open

Victor Applebaum, Evan Baker, Thomas J. Kim, Georgia Stimpson, Peter Challenor , et al. · 2025

Duchenne Muscular Dystrophy is a progressive neuromuscular disorder characterized by the gradual weakening and deterioration of muscles, leading to loss of ambulation in affected individuals. This decline in mobility can be effectively ass…

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Open

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina , et al. · 2025

Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…

Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy Open

Anna Mayhew, James Signorovitch, Michaela Johnson, Molly Frean, Susan Ward , et al. · 2025

In Duchenne muscular dystrophy (DMD), age at symptom onset and rate of decline thereafter vary considerably. This study contrasted disease progression over time using the North Star Ambulatory Assessment (NSAA) in an overall sample of pati…

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy Open

Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia , et al. · 2025

Aim To investigate the associations between mutations expected to differentially affect Dp140 expression and long‐term trajectories of respiratory and upper‐limb motor outcomes in Duchenne muscular dystrophy (DMD). Method In a retrospectiv…

Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade Open

Gregory Landon, Georgia Stimpson, Michela Guglieri, Anna Sárközy, Adnan Y. Manzur , et al. · 2025

Background Glucocorticosteroids (GC) are standard-of-care treatment for most boys with duchenne muscular dystrophy (DMD). GC use has changed over time with evolving evidence, and we describe GC patterns, dosing and side-effects in the UK o…

Duchenne muscular dystrophy: recent insights in brain related comorbidities Open

Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos G.M. Hendriksen, K. Tetorou , et al. · 2025

Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promot…

Heterozygous <i>PNPT1</i> Variants Cause a Sensory Ataxic Neuropathy Open

S. Haddad, Christopher J. Record, Eleanor Self, Mariola Skorupinska, Alexander M. Rossor , et al. · 2025

Background Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1 , have been…

Spinal muscular atrophy in the UK: the human toll of slow decisions Open

Laurent Servais, Tamara Dangouloff, Francesco Muntoni, Mariacristina Scoto, Giovanni Baranello · 2025

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Open

Sandra Coppens, Nicolas Deconinck, Patricia A. Sullivan, Andrei Smolnikov, Joshua S. Clayton , et al. · 2025

Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders. Objective To better understand the presentation and clinical needs of the under‐characterized extreme end of the congenital titinopathy seve…

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open

Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans , et al. · 2025

Contaminating manufacturing plasmids and disrupted vector genomes present in liver tissue following adeno-associated virus gene therapy Open

Sarah Buddle, Li‐An K. Brown, Sofia Morfopoulou, Oscar Enrique Torres Montaguth, Mariacristina Scoto , et al. · 2025

Adeno-associated viruses (AAVs) are the most used vectors in gene therapy but can frequently cause liver complications in patients. The mechanisms underlying AAV-related liver toxicity remain poorly understood, posing challenges for effect…

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study Open

Lianne Abbott, Marion Main, Amy Wolfe, Annemarie Rohwer, Giovanni Baranello , et al. · 2025

Background Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have mad…

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy Open

Hugh J. McMillan, Giovanni Baranello, Michelle A. Farrar, Craig M. Zaidman, T. Moreno , et al. · 2024

This study provides Class IV evidence that intravenous onasemnogene abeparvovec is safe in pediatric patients with SMA who weigh 8.5-21 kg.

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy Open

Amel Saoudi, Manuela D. Mitsogiannis, Faouzi Zarrouki, Claire Fergus, E Stojek , et al. · 2024

The severity of brain comorbidities in Duchenne muscular dystrophy (DMD) depends on the mutation position within the DMD gene and differential loss of distinct brain dystrophin isoforms (i.e. Dp427, Dp140, Dp71). Comparative studies of DMD…

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial Open

Jerry R. Mendell, Francesco Muntoni, Craig M. McDonald, Eugenio Mercuri, Emma Ciafaloni , et al. · 2024

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy Open

Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell , et al. · 2024

Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids Open

Georgia Stimpson, Deborah Ridout, Anna Sárközy, Adnan Manzur, Francesco Muntoni , et al. · 2024

Background and purpose Treatment with glucocorticoids (GCs) is part of the standard of care in Duchenne muscular dystrophy, but excess weight gain and height stunting are common side‐effects. It is still unclear how these growth‐related si…

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