Cargando…

Fear of disease progression in carriers of the m.3243A > G mutation

BACKGROUND: Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with considerable uncertainty regarding their prognosis and t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234600/ https://www.ncbi.nlm.nih.gov/pubmed/30424784 http://dx.doi.org/10.1186/s13023-018-0951-y

Ejemplares similares

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
por: Verhaak, Christianne, et al.
Publicado: (2016)

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant
por: Klein, Inge‐Lot, et al.
Publicado: (2022)

Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
por: Janssen, Mirian C.H., et al.
Publicado: (2018)

Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
por: de Laat, Paul, et al.
Publicado: (2018)

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
por: Smeitink, Jan, et al.
Publicado: (2019)

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
por: de Laat, Paul, et al.
Publicado: (2012)

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation
por: de Laat, Paul, et al.
Publicado: (2012)

Three families with ‘de novo’ m.3243A > G mutation
por: de Laat, Paul, et al.
Publicado: (2016)

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study
por: Koene, S., et al.
Publicado: (2017)

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
por: de Laat, Paul, et al.
Publicado: (2019)

Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors
por: Zweers, Heidi E. E., et al.
Publicado: (2020)

Psychological functioning in children suspected for mitochondrial disease: the need for care
por: van de Loo, Kim F. E., et al.
Publicado: (2020)

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA
por: Zweers, Heidi E. E., et al.
Publicado: (2020)

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers
por: Langdahl, Jakob Høgild, et al.
Publicado: (2019)

Kidney transplantation in m.3243A>G carriers has outcome implications
por: Finsterer, Josef
Publicado: (2020)

Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies
por: Finsterer, Josef, et al.
Publicado: (2016)

Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier
por: Finsterer, Josef
Publicado: (2021)

Stroke-Like Lesion in an m.3243A>G Carrier Presenting as Hyperperfusion and Hypometabolism
por: Finsterer, Josef, et al.
Publicado: (2021)

Mitochondrial m.3243A > G mutation and carotid artery dissection
por: Mancuso, Michelangelo, et al.
Publicado: (2016)

Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity
por: Finsterer, Josef, et al.
Publicado: (2017)

Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A>G Mutation
por: Gamba, Juliana, et al.
Publicado: (2012)

Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery
por: Finsterer, Josef, et al.
Publicado: (2016)

The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
por: Ryytty, Sanna, et al.
Publicado: (2023)

Ischemic and Metabolic Stroke Can Co-occur in m.3243A>G Carriers: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2022)

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)

Gastrointestinal Involvement in m.3243A>G-associated MELAS
por: Finsterer, Josef, et al.
Publicado: (2017)

The m.3243A>G Genotype Can Be Associated with Rhabdomyolysis
por: Finsterer, Josef
Publicado: (2020)

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction
por: Koene, Saskia, et al.
Publicado: (2010)

Mitochondrial medicine
por: Koene, Saskia, et al.
Publicado: (2011)

Authors' Reply to ‘Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity'
por: Tashiro, Ryosuke, et al.
Publicado: (2017)

Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism
por: McMillan, Ryan P., et al.
Publicado: (2019)

The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
por: Motlagh Scholle, Leila, et al.
Publicado: (2020)

Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA
por: Henning, F., et al.
Publicado: (2007)

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
por: Majamaa-Voltti, Kirsi, et al.
Publicado: (2002)

Multimodal retinal imaging of m.3243A>G associated retinopathy
por: Romano, Francesco, et al.
Publicado: (2022)

Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons
por: Klein Gunnewiek, Teun M., et al.
Publicado: (2021)

Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
por: Scarcella, Simone, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_o07n65agnvf8folt55cmo99h9c