(Q50726746)

18 March 2018

title

Selective retinal ganglion cell loss in familial dysautonomia. (English)

1 reference

18 March 2018

main subject

retinal ganglion cell

1 reference

Carlos E Mendoza-Santiesteban

inferred from title

author

1

1 reference

18 March 2018

Horacio Kaufmann

5

1 reference

18 March 2018

Lucy Norcliffe-Kaufmann

3

object named as

Lucy Norcliffe-Kaufmann

1 reference

18 March 2018

Felicia B Axelrod

4

object named as

Felicia Axelrod

1 reference

18 March 2018

author name string

Thomas R Hedges Iii

2

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18 March 2018

publication date

2 February 2014

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18 March 2018

published in

Journal of Neurology

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18 March 2018

volume

261

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18 March 2018

issue

4

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18 March 2018

page(s)

702-709

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18 March 2018

https://scigraph.springernature.com/pub.10.1007/s00415-014-7258-2

exact match

0 references

cites work

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1 reference

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Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

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Afferent baroreflex failure in familial dysautonomia

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Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.

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Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia

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1 reference

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Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?

21 January 2018

1 reference

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Ophthalmologic studies of familial dysautonomia. The Riley-Day syndrome

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Clinical neuro-ophthalmic findings in familial dysautonomia.

21 January 2018

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Plasticity of fixation in patients with central vision loss

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The neuro-ophthalmology of mitochondrial disease

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Epidemic optic and peripheral neuropathy in Cuba: a unique geopolitical public health problem

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Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

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

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

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The natural history of OPA1-related autosomal dominant optic atrophy

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Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

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Progressive sensory loss in familial dysautonomia

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12 December 2020

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

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Optic neuropathy in familial dysautonomia

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The production of tears in familial dysautonomia; preliminary report

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Central autonomic dysfunction with defective lacrimation; report of five cases.

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Optic nerve dysfunction in familial dysautonomia

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Familial dysautonomia in review: diagnosis and treatment of ocular manifestations.

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Optic atrophy in familial dysautonomia

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10.1007/S00415-014-7258-2

Identifiers

DOI

1 reference

18 March 2018

PubMed ID

24487827

1 reference

18 March 2018