Explanipedia

Spatial Variability in Mitochondrial Markers in m.3243A>G-related Myopathy: Translational Implications for Longitudinal Studies Open

Tiago Gomes, Jordan Childs, Valeria Di Leo, Charlotte Warren, Gavin Hudson , et al. · 2025

Myopathy is a prevalent and disabling feature of mitochondrial disease, in which skeletal muscle accumulates fibres with mitochondrial dysfunction in a variable mosaic pattern. This intra-individual spatial heterogeneity, a key considerati…

Bayesian classification of OXPHOS deficient skeletal myofibres Open

Jordan Childs, Tiago Gomes, Amy E. Vincent, Andrew Golightly, Conor Lawless · 2025

Mitochondria are organelles in most human cells which release the energy required for cells to function. Oxidative phosphorylation (OXPHOS) is a key biochemical process within mitochondria required for energy production and requires a rang…

Impact of commonly administered drugs on the progression of spinal cord injury: a systematic review Open

Lucie Bourguignon, Louis P. Lukas, Bethany R. Kondiles, Bobo Tong, Jaimie J. Lee , et al. · 2024

Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation Open

Tiago Gomes, Amy E. Vincent, Katja E. Menger, James B. Stewart, Thomas J. Nicholls · 2024

Human mitochondria possess a multi-copy circular genome, mitochondrial DNA (mtDNA), that is essential for cellular energy metabolism. The number of copies of mtDNA per cell, and their integrity, are maintained by nuclear-encoded mtDNA repl…

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders Open

Amy E. Vincent, Chun Chen, Tiago Gomes, Valeria Di Leo, Tuomas Laalo , et al. · 2024

Mitochondrial DNA (mtDNA) deletions which clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impair mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions aris…

NCL-SM: A Fully Annotated Dataset of Images from Human Skeletal Muscle Biopsies Open

Atif Khan, Conor Lawless, Amy E. Vincent, Charlotte Warren, Valeria Di Leo , et al. · 2023

Single cell analysis of human skeletal muscle (SM) tissue cross-sections is a fundamental tool for understanding many neuromuscular disorders. For this analysis to be reliable and reproducible, identification of individual fibres within mi…

Introducing NCL-SM: A Fully Annotated Dataset of Images from Human Skeletal Muscle Biopsies Open

Atif Khan, Conor Lawless, Amy E. Vincent, Charlotte Warren, Valeria Di Leo , et al. · 2023

Single cell analysis of skeletal muscle (SM) tissue is a fundamental tool for understanding many neuromuscular disorders. For this analysis to be reliable and reproducible, identification of individual fibres within microscopy images (segm…

Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy Open

Valeria Di Leo, Tiago Gomes, Amy E. Vincent · 2023

Mitochondrial dysfunction in skeletal muscle fibres occurs with both healthy aging and a range of neuromuscular diseases. The impact of mitochondrial dysfunction in skeletal muscle and the way muscle fibres adapt to this dysfunction is imp…

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders Open

Amy E. Vincent, Chun Chen, Tiago Gomes, Valeria Di Leo, Tuomas Laalo , et al. · 2023

Mitochondrial DNA deletions clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impairing mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions originally aris…

EP078 Motor blockade in labor analgesia: look at the bright side Open

Ana Franco, Roberto J Ameiro, Nuno Lareiro, Raquel Pontes, Tiago Gomes · 2023

Background and Aims Vaginismus is a condition characterized by an aversion to vaginal penetration due to actual or anticipated pain. This can pose challenges during pregnancy and delivery. Methods We report a case of a 25-year-old pregnant…

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1 Open

Valeria Di Leo, Conor Lawless, Marie‐Pier Roussel, Tiago Gomes, Gráinne S. Gorman , et al. · 2023

Background: Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia Myotonica Protein Kinase ( DMPK) gene. At present, no cure currently e…

Cell division can accelerate the loss of a heteroplasmic mitochondrial DNA mutation in a mouse model of mitochondrial disease Open

Tianhong Su, Tiago Gomes, Anna L M Smith, Julia C. Whitehall, Alasdair Blain , et al. · 2023

Mitochondrial DNA (mtDNA) mutations accumulate in both mitotic and post-mitotic somatic tissues of normal individuals with age. They clonally expand within individual cells and cause mitochondrial dysfunction. In contrast, in patients with…

Strength training rescues mitochondrial dysfunction in skeletal muscle of patients with myotonic dystrophy type 1 Open

Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago Gomes, Gráinne S. Gorman , et al. · 2023

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder, for which no cure exists. This study investigates the effects of 12-week strength training on mitochondrial oxidative phosphorylation in skeletal muscle in a cohort of DM1 patien…

Hyaluronidase following buccal infiltrations of articaine with epinephrine for anesthesia of mandibular first molars: A split-mouth, double-blind, placebo-controlled randomized clinical trial Open

Tiago Gomes, Luiz Felipe Palma, Mauricio José Tornelli, Helena Regina Tornelli, C. Y Fukuoka , et al. · 2022

Adjunctive hyaluronidase following buccal infiltration of articaine with epinephrine for mandibular first molars seems not to provide any advantage in anesthetic outcomes in which the nerve fibers are intraosseous (i.e., pulpal anesthesia)…

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission Open

Tiago Gomes, Yi Shiau Ng, Sarah J. Pickett, Douglass M. Turnbull, Amy E. Vincent · 2021

Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. The mitochondrial genome occurs in multiple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA varia…

A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1) Open

Joseph P. Horrigan, Tiago Gomes, Mike Snape, Nikoletta Nikolenko, Alison McMorn , et al. · 2020

AMO-02 has favorable pharmacokinetic and clinical risk/benefit profiles meriting further study as a potential treatment for congenital and childhood-onset type 1 myotonic dystrophy.

The best care for children with facioscapulohumeral dystrophy Open

Tiago Gomes · 2019

This commentary is on the original article by Steel et al. on pages 964–971 of this issue.

Investigação de Etiologia Genética nas Ataxias Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João, Portugal Open

Tiago Gomes, Joana Guimarães, Miguel Leão, Em nome do Grupo de Neurogenética do Centro Hospitalar São João · 2017

Nas últimas décadas foi identificada uma lista crescente de ataxias neurodegenerativas de causa monogénica, permitindo uma melhor caracterização da patofisiologia, fenótipo e prognóstico deste grupo heterogéneos de patologias e revelando p…

“Living together with dementia”: Training programme for family caregivers – A study protocol Open

Lia Sousa, Carlos Sequeira, Carme Ferré‐Grau, Pedro Neves, Mar Lleixà Fortuño , et al. · 2017

This programme might prove an asset to family caregivers of people with dementia living at home, since it pinpoints understanding and preparation of their role. It also facilitates the intervention of health professional, as it features as…

Eye Movement Analysis and Cognitive Assessment Open

Pedro Gamito, Jorge Oliveira, Diogo Morais, Matthew Pavlovic, Olivia Smyth , et al. · 2016

Summary Background: An adequate behavioral response depends on attentional and mnesic processes. When these basic cognitive functions are impaired, the use of non-immersive Virtual Reality Applications (VRAs) can be a reliable technique fo…

A Neurologist’s Hard Day’s Work: Impact of Inpatient Neurology Consultation in a Tertiary Hospital Open

Helena Rocha, Ana Monteiro, Tiago Gomes, Miguel Grilo, Márcia Carvalho · 2016

Introduction: Consultation of hospitalized patients under the responsibility of other specialties is a very demanding work. However, it is often under-recognized and poorly documented. The aim of the present study was to assess the burden …

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