Cargando…

Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

Detalles Bibliográficos
Autor principal:	Finsterer, Josef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Yonsei University College of Medicine 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342708/ https://www.ncbi.nlm.nih.gov/pubmed/30666846 http://dx.doi.org/10.3349/ymj.2019.60.2.230

Ejemplares similares

The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions
por: Lee, Young-Mock
Publicado: (2019)

Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”
por: Finsterer, Josef
Publicado: (2020)

Comprehensive clinical and genetic work-up of patients carrying single mtDNA deletions is warranted
por: Finsterer, Josef
Publicado: (2021)

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome
por: Finsterer, Josef, et al.
Publicado: (2018)

Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T
por: Finsterer, Josef
Publicado: (2018)

Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations
por: Finsterer, Josef, et al.
Publicado: (2022)

Diagnosing Leber's Hereditary Optic Neuropathy Requires Documentation of a Causative mtDNA Variant
por: Finsterer, Josef
Publicado: (2023)

mtDNA deletions responsible for unsuccessful pregnancy after in- vitro fertilization
Publicado: (2020)

Evidence of this speculation is needed before the possible beneficial effect of the ketogenic diet can be attributed to the increase in wild‐type mtDNA
por: Finsterer, Josef
Publicado: (2023)

Intra-familial phenotypic heterogeneity of m.3243A > G carriers remains elusive as long as heteroplasmy and mtDNA copy numbers are absent
por: Finsterer, Josef
Publicado: (2023)

Unmasking fibromyalgia as a mitochondrial disorder requires search for more than a single variant or single mtDNA deletions
por: Finsterer, Josef
Publicado: (2020)

Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion
por: Finsterer, Josef
Publicado: (2021)

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF
por: Finsterer, Josef
Publicado: (2019)

K320E-twinkle(skin) Mice Are Genetically Heterogeneous for Secondary mtDNA Deletions Impairing Comparison With Controls
por: Finsterer, J.
Publicado: (2021)

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
por: Hou, Yue, et al.
Publicado: (2022)

Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing
por: Finsterer, Josef
Publicado: (2022)

Association of human mtDNA mutations with autism in Iranian patients
por: Mousavizadeh, Kazem, et al.
Publicado: (2013)

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

MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions
por: Yu, Nian, et al.
Publicado: (2016)

Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions
por: Fuke, Satoshi, et al.
Publicado: (2014)

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
por: Nasca, Alessia, et al.
Publicado: (2022)

When man got his mtDNA deletions?
por: Popadin, Konstantin, et al.
Publicado: (2014)

Resolving the Enigma of the Clonal Expansion of mtDNA Deletions
por: Kowald, Axel, et al.
Publicado: (2018)

Cerebellar stroke-like lesions in Leigh syndrome due to the variant m.8993T>C in MT-ATP6
por: Finsterer, Josef
Publicado: (2019)

Commentary: Case report: Optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant
por: Finsterer, Josef
Publicado: (2022)

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion
por: Varga, Noémi Ágnes, et al.
Publicado: (2018)

Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A”
por: Chinopoulos, Christos, et al.
Publicado: (2018)

Is chronic fatigue syndrome truly associated with haplogroups or mtDNA single nucleotide polymorphisms?
por: Finsterer, Josef, et al.
Publicado: (2016)

ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions
por: Keeney, Paula M, et al.
Publicado: (2010)

Diabetes due to Mitochondrial Adipopathy
por: Finsterer, Josef, et al.
Publicado: (2017)

Mitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusis
por: MOSTAFA, H., et al.
Publicado: (2014)

mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
por: Arzanian, Mohammad Taghi, et al.
Publicado: (2010)

Response to: ‘when man got his mtDNA deletions?’
por: Taylor, Sean D, et al.
Publicado: (2014)

mtDNA, Metastasis, and the Mitochondrial Unfolded Protein Response (UPR(mt))
por: Kenny, Timothy C., et al.
Publicado: (2017)

Comment on “Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene”
por: Finsterer, J., et al.
Publicado: (2019)

Identification of a novel mtDNA lineage B3 in chicken (Gallus gallus domesticus)
por: Huang, Xun-He, et al.
Publicado: (2017)

Hemolytic Anemia Requiring Splenectomy in Leigh-Like Syndrome due to the Variant m.10191T>C in MT-ND3
por: Newstead, Shaundra M., et al.
Publicado: (2023)

Ancient mtDNA Genetic Variants Modulate mtDNA Transcription and Replication
por: Suissa, Sarit, et al.
Publicado: (2009)

In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions
por: Rebelo, Adriana P., et al.
Publicado: (2009)

Complete Bilateral Ophthalmoplegia Due to a Strategic Midbrain Infarct
por: Maramattom, Boby Varkey, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_d5obhf3jvsaffuddqglgu4f2jt