Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON) (Q37021025)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19104679 AND SRC:MED&resulttype=core&format=json

19 January 2020

title

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19104679 AND SRC:MED&resulttype=core&format=json

Leber hereditary optic neuropathy

19 January 2020

main subject

phosphorylation

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1 reference

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John Guy

1

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19 January 2020

Gerry Shaw

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19 January 2020

Fred N Ross-Cisneros

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19 January 2020

Peter Quiros

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19 January 2020

Solange R Salomao

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19 January 2020

Adriana Berezovsky

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19 January 2020

Valerio Carelli

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19 January 2020

William J Feuer

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19 January 2020

Alfredo A Sadun

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19 January 2020

publication date

22 December 2008

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19 January 2020

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19 January 2020

volume

14

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19 January 2020

page(s)

2443-2450

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Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

19 January 2020

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Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT.

29 September 2017

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Hyperphosphorylated neurofilament NF-H is a serum biomarker of axonal injury

29 September 2017

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Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite

29 September 2017

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Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss

29 September 2017

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Axonal damage accumulates in the progressive phase of multiple sclerosis: three year follow up study.

29 September 2017

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Axonal degeneration and inflammation in acute optic neuritis

29 September 2017

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A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy

29 September 2017

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Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene

29 September 2017

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Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

29 September 2017

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Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

29 September 2017

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Mitochondrial disease in mouse results in increased oxidative stress

29 September 2017

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Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy

29 September 2017

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

29 September 2017

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X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

29 September 2017

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SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.

29 September 2017

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Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve

27 June 2018

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Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations

27 June 2018

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Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings

27 June 2018

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The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

27 June 2018

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Quantifying axonal loss after optic neuritis with optical coherence tomography.

4 September 2018

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4 September 2018

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The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation

4 September 2018

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Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

4 September 2018

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Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

4 September 2018

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4 September 2018

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Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

4 September 2018

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Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

4 September 2018

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Comparison of two ELISA methods for measuring levels of the phosphorylated neurofilament heavy chain

20 October 2018

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12 December 2020

The epidemiology of pathogenic mitochondrial DNA mutations

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12 December 2020

Optic neuropathy in Lhon and Leigh syndrome

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12 December 2020

Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family

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12 December 2020

Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation

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12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

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12 December 2020

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

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12 December 2020

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

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12 December 2020

A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls

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12 December 2020

The new global multiple sclerosis severity score (MSSS) correlates with axonal but not glial biomarkers

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19104679 AND SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

19104679

1 reference