(Q34985469)

5 August 2017

title

Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases (English)

1 reference

5 August 2017

0 references

M. J. Vaizey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

3 August 2022

M. D. Sanders

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

3 August 2022

K. C. Wybar

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

3 August 2022

J. Wilson

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

3 August 2022

language of work or name

English

0 references

publication date

1 May 1977

1 reference

full work available at URL

5 August 2017

https://europepmc.org/articles/PMC1544560

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

https://europepmc.org/articles/PMC1544560?pdf=render

3 August 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A869570

Archives of Disease in Childhood

3 August 2022

published in

1 reference

5 August 2017

volume

52

1 reference

5 August 2017

issue

5

1 reference

5 August 2017

page(s)

399-402

1 reference

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

The representation of the visual field on the cerebral cortex in monkeys

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Hereditary renal dysplasia and blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Familial occurrence of congenital retinal blindness and developmental renal lesions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Mental retardation and neurologic involvement in patients with congenital retinal blindness.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

Non-corneal electroretinogram. Parameters in normal children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

SOCIAL PATHOLOGY OF FOETAL AND INFANT LOSS.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544560

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

26 October 2018

1 reference

12 December 2020

Dysgenesis or abiotrophy? A differentiation with the help of the electro-retinogram (ERG) and electro-oculogram (EOG) in Leber's congenital amaurosis

1 reference

12 December 2020

Amaurosis congenita (Leber)

1 reference

12 December 2020

Congenital amaurosis and nephrophthisis: a new syndrome

1 reference

12 December 2020

Juvenile nephronophthisis

1 reference

12 December 2020

Hereditary Renal-Retinal Dysplasia

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.52.5.399

1 reference

5 August 2017

1 reference

5 August 2017

1 reference