Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.
about
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesionsLeber's hereditary optic neuropathy is multiorgan not mono-organSyndromic parkinsonism and dementia associated with OPA1 missense mutationsThe background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicityRare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyMitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration.Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2.Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathyMedical management of hereditary optic neuropathies.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Mitochondrial ATP synthase: architecture, function and pathology.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Mitochondrial disease: genetics and management.Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.Bilateral progressive visual loss in an epileptic, mentally retarded boy.Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA.Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.Progressive ataxia with oculo-palatal tremor and optic atrophy.Searching the co-occurrence of pathogenic mutations for Leber's hereditary optic neuropathy and hearing loss in more than 26,000 whole mitochondrial genomes.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.Movement disorders in mitochondrial disease.Myoclonus in mitochondrial disorders.High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.ATP Synthase Diseases of Mitochondrial Genetic Origin.Leber’s hereditary optic neuropathy: new quinone therapies change the paradigm
P2860
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P2860
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.
description
2008 nî lūn-bûn
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2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
@zh-hant
name
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@en
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@nl
type
label
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@en
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@nl
prefLabel
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@en
Rare mtDNA variants in Leber h ...... with recurrence of myoclonus.
@nl
P2093
P50
P1433
P1476
Rare mtDNA variants in Leber h ...... s with recurrence of myoclonus
@en
P2093
A Olivieri
P Montagna
R Carroccia
R Vetrugno
P304
P356
10.1212/01.WNL.0000295505.74234.D0
P407
P50
P577
2008-01-23T00:00:00Z