Cargando…

Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study

OBJECTIVE: To determine the prevalence of neuromuscular junction (NMJ) abnormalities in patients with mitochondrial disease. METHODS: Eighty patients with genetically proven mitochondrial disease were recruited from a national center for mitochondrial disease in the United Kingdom. Participants unde...

Descripción completa

Detalles Bibliográficos
Autores principales:	Braz, Luis P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., McFarland, Robert, Taylor, Robert W., Turnbull, Doug M., Whittaker, Roger G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032443/ https://www.ncbi.nlm.nih.gov/pubmed/33842062 http://dx.doi.org/10.1212/CPJ.0000000000000795

Ejemplares similares

Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses
por: Stefanetti, Renae J., et al.
Publicado: (2020)

Scientific and Ethical Issues in Mitochondrial Donation
por: Craven, Lyndsey, et al.
Publicado: (2018)

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
por: Vincent, Amy E., et al.
Publicado: (2016)

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease
por: Boal, Rachel L, et al.
Publicado: (2018)

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
por: Pickett, Sarah J., et al.
Publicado: (2018)

Epilepsy in adults with mitochondrial disease: A cohort study
por: Whittaker, Roger G., et al.
Publicado: (2015)

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2018)

Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Consensus-based statements for the management of mitochondrial stroke-like episodes
por: Ng, Yi Shiau, et al.
Publicado: (2019)

Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects
por: Lim, Albert Zishen, et al.
Publicado: (2021)

l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review
por: Stefanetti, Renae J., et al.
Publicado: (2022)

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions
por: Rocha, Mariana C., et al.
Publicado: (2018)

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
por: Moore, Heather L., et al.
Publicado: (2019)

Disease progression in patients with single, large-scale mitochondrial DNA deletions
por: Grady, John P., et al.
Publicado: (2014)

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
por: Grady, John P, et al.
Publicado: (2018)

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
por: Gorman, Gráinne S., et al.
Publicado: (2015)

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
por: Gorman, Gráinne S., et al.
Publicado: (2015)

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease
por: Newman, Jane, et al.
Publicado: (2015)

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder
por: Bourke, John P, et al.
Publicado: (2022)

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Mitochondrial disease: genetics and management
por: Ng, Yi Shiau, et al.
Publicado: (2015)

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
por: Galna, Brook, et al.
Publicado: (2013)

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
por: Lim, Albert Z., et al.
Publicado: (2021)

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
por: Hollingsworth, Kieren G., et al.
Publicado: (2012)

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease
por: Lax, Nichola Z., et al.
Publicado: (2015)

A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction
por: Olkhova, Elizaveta A., et al.
Publicado: (2023)

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
por: Lujan, Scott A., et al.
Publicado: (2020)

Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation
por: Martikainen, Mika H., et al.
Publicado: (2015)

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls
por: Erskine, Daniel, et al.
Publicado: (2019)

COVID-19–Related Outcomes in Primary Mitochondrial Diseases: An International Study
por: Pizzamiglio, Chiara, et al.
Publicado: (2022)

Forecasting stroke-like episodes and outcomes in mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2021)

The ageing neuromuscular system and sarcopenia: a mitochondrial perspective
por: Rygiel, Karolina A., et al.
Publicado: (2016)

Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children
por: Pitt, Matthew
Publicado: (2018)

Postsynaptic Abnormalities at the Neuromuscular Junctions of Utrophin-deficient Mice
por: Deconinck, Anne E., et al.
Publicado: (1997)

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study
por: Ng, Yi Shiau, et al.
Publicado: (2019)

Initial development and validation of a mitochondrial disease quality of life scale
por: Elson, J.L., et al.
Publicado: (2013)

Mitochondrial Mechanisms of Neuromuscular Junction Degeneration with Aging
por: Anagnostou, Maria-Eleni, et al.
Publicado: (2020)

A national perspective on prenatal testing for mitochondrial disease
por: Nesbitt, Victoria, et al.
Publicado: (2014)

Endocrine Manifestations and New Developments in Mitochondrial Disease
por: Ng, Yi Shiau, et al.
Publicado: (2021)

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies
por: Spendiff, Sally, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_lov1qmlqa2sq5fqaqi6sit6dui