(Q33643331)

28 July 2017

title

A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis (English)

1 reference

28 July 2017

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Moore AT

1

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28 July 2017

Taylor DS

series ordinal

2

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28 July 2017

language of work or name

English

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publication date

1 June 1984

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British Journal of Ophthalmology

28 July 2017

published in

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28 July 2017

volume

68

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28 July 2017

issue

6

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28 July 2017

page(s)

421-431

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Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Hereditary renal dysplasia and blindness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Slow saccadic eye movements in Wilson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Congenital ocular motor apraxia: paediatric aspects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Retinal aplasia in association with macular coloboma, keratoconus and cataract.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Electrophysiologic study of the visual system in familial juvenile nephronophthisis and tapetoretinal dystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

A disorder of rapid eye movements in Huntington's chorea

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Disc oedema in congenital amaurosis of Leber

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Supranuclear ophthalmoplegia in olivopontocerebellar degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Congenital ocular motor apraxia. A possible disconnection syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Leber's congenital amaurosis. Is mental retardation a frequent associated defect?

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Congenital amaurosis of retinal origin. Frequent association with neurological disorders.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040367

Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia

30 October 2018

1 reference

12 December 2020

Amaurosis congenita (Leber)

1 reference

12 December 2020

A type of congenital ocular motor apraxia presenting jerky head movements

1 reference

12 December 2020

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

1 reference

12 December 2020

Congenital ocular motor apraxia in females

1 reference

12 December 2020

Juvenile nephronophthisis

1 reference

12 December 2020

Congenital ocular motor apraxia

1 reference

12 December 2020

Congenital ocular motor apraxia

1 reference

12 December 2020

Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations

1 reference

12 December 2020

FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS

1 reference

12 December 2020

Congenital amaurosis and nephrophthisis: a new syndrome

1 reference

12 December 2020

Macular colobomas in Leber's congenital amaurosis

1 reference

12 December 2020

Familial infantile cerebellar atrophy associated with retinal degeneration

1 reference

12 December 2020

Ataxia-telangiectasia

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.68.6.421

1 reference

28 July 2017

1 reference

28 July 2017

1 reference