Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
about
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophyIdentification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderThe epidemiology of Leber hereditary optic neuropathy in the North East of EnglandMitochondriaMitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathyND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutationMitochondrial DNA analysis: polymorphisms and pathogenicityDecylubiquinone increases mitochondrial function in synaptosomesVery low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.The neurodegenerative mitochondriopathies.Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.Leber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patientsLeber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Mitochondrial DNA haplogroups and mutations in children with acquired central demyelinationRaised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic NeuropathyLeber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection RevisitedHaplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutationMeasurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.Mitochondrial dynamics in cancer and neurodegenerative and neuroinflammatory diseases.Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathyComplete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy.Efficacy and Safety of rAAV2-ND4 Treatment for Leber's Hereditary Optic NeuropathyStudy of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells.Inherited mitochondrial optic neuropathies.Mitochondrial mutations: newly discovered players in neuronal degeneration.Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathyGene-environment interactions in Leber hereditary optic neuropathy.Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial.Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
P2860
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P2860
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@en
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@nl
type
label
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@en
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@nl
prefLabel
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@en
Primary pathogenic mtDNA mutat ...... r hereditary optic neuropathy.
@nl
P2093
P2860
P1476
Primary pathogenic mtDNA mutat ...... er hereditary optic neuropathy
@en
P2093
Bolhuis PA
Bronte-Stewart J
Harding AE
Nikoskelainen E
Rosenberg T
P2860
P304
P407
P577
1996-08-01T00:00:00Z