Cargando…

Mitochondrial m.3243A > G mutation and carotid artery dissection

The common m.3243A > G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mancuso, Michelangelo, Montano, Vincenzo, Orsucci, Daniele, Peverelli, Lorenzo, Caputi, Luigi, Gambaro, Paola, Siciliano, Gabriele, Lamperti, Costanza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021764/ https://www.ncbi.nlm.nih.gov/pubmed/27656415 http://dx.doi.org/10.1016/j.ymgmr.2016.08.010

Ejemplares similares

Revealing the Complexity of Mitochondrial DNA-Related Disorders
por: Orsucci, Daniele, et al.
Publicado: (2018)

Mitochondrial DNA sequence variation and neurodegeneration
por: Mancuso, Michelangelo, et al.
Publicado: (2008)

NEWS and VIEWS: mitochondrial encephalomyopathies
por: Ienco, Elena Caldarazzo, et al.
Publicado: (2016)

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies
por: Siciliano, Gabriele, et al.
Publicado: (2012)

May “Mitochondrial Eve” and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease?
por: Ienco, Elena Caldarazzo, et al.
Publicado: (2011)

Mitochondrial disorders and drugs: what every physician should know
por: Orsucci, Daniele, et al.
Publicado: (2019)

Mitochondrial Syndromes Revisited
por: Orsucci, Daniele, et al.
Publicado: (2021)

Therapeutical Management and Drug Safety in Mitochondrial Diseases—Update 2020
por: Gruosso, Francesco, et al.
Publicado: (2020)

Current and emerging treatment options in the management of Friedreich ataxia
por: Mancuso, Michelangelo, et al.
Publicado: (2010)

Tetracyclines and Neuromuscular Disorders
por: Orsucci, Daniele, et al.
Publicado: (2012)

Mitochondrial Epilepsy, a Challenge for Neurologists
por: Lopriore, Piervito, et al.
Publicado: (2022)

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity
por: Lopriore, Piervito, et al.
Publicado: (2022)

Coenzyme Q10 and Neurological Diseases
por: Mancuso, Michelangelo, et al.
Publicado: (2009)

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

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
por: Musumeci, Olimpia, et al.
Publicado: (2019)

Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
por: Simoncini, Costanza, et al.
Publicado: (2017)

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy
por: Montano, Vincenzo, et al.
Publicado: (2020)

Pathophysiology and Management of Fatigue in Neuromuscular Diseases
por: Torri, Francesca, et al.
Publicado: (2023)

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
por: Montano, V., et al.
Publicado: (2021)

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)

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
por: Mancuso, Michelangelo, et al.
Publicado: (2021)

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2012)

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

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
por: Li, Danyang, et al.
Publicado: (2022)

Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
por: Miyahara, Hiroaki, et al.
Publicado: (2023)

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
por: Ticci, Chiara, et al.
Publicado: (2021)

Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report
por: Liu, Xiao-Qun, et al.
Publicado: (2019)

Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons
por: Lin, Dar-Shong, et al.
Publicado: (2022)

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

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

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
por: Finsterer, Josef, et al.
Publicado: (2020)

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

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

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
por: Ikeda, Takahiro, et al.
Publicado: (2018)

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

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

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

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene
por: Simoncini, C., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_6pcat1btki3qalb4bmhpshdhng