Cargando…

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

OBJECTIVE: This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome. METHODS: Seventy‐two Leigh syndrome children who completed the Newcastle Paediatric Mitochondrial D...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lim, Albert Z., Ng, Yi Shiau, Blain, Alasdair, Jiminez‐Moreno, Cecilia, Alston, Charlotte L., Nesbitt, Victoria, Simmons, Louise, Santra, Saikat, Wassmer, Evangeline, Blakely, Emma L., Turnbull, Doug M., Taylor, Robert W., Gorman, Gráinne S., McFarland, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534328/ https://www.ncbi.nlm.nih.gov/pubmed/34716721 http://dx.doi.org/10.1002/ana.26260

Ejemplares similares

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

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease
por: Ng, Yi Shiau, et al.
Publicado: (2016)

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

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

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease
por: Boal, Rachel L, 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)

Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study
por: Braz, Luis P., et al.
Publicado: (2021)

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

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

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
por: Hayhurst, Hannah, et al.
Publicado: (2019)

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

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

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)

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)

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

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

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

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)

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
por: Tuppen, Helen A. L., et al.
Publicado: (2010)

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

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant
por: Alston, Charlotte L., et al.
Publicado: (2020)

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

Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
por: Blakely, Emma L., et al.
Publicado: (2014)

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

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

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
por: Wesolowska, Maria, et al.
Publicado: (2015)

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
por: Alahmad, Ahmad, et al.
Publicado: (2020)

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)

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
por: Alston, Charlotte L., et al.
Publicado: (2020)

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

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

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease
por: Yarham, John W., et al.
Publicado: (2013)

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

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
por: Gorman, Grainne S., et al.
Publicado: (2015)

A case‐comparison study of pregnant women with mitochondrial disease – what to expect?
por: Feeney, CL, et al.
Publicado: (2019)

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome
por: Smith, Laura A., et al.
Publicado: (2022)

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

Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies
por: Hatton, Christopher, et al.
Publicado: (2020)

The genetic basis of isolated mitochondrial complex II deficiency
por: Fullerton, Millie, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_eifppdith0na6p2a1nrnn77o10