Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome (Q33644743)

28 July 2017

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome (English)

1 reference

28 July 2017

mitochondrial myopathy

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Runge P

1

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28 July 2017

Calver D

series ordinal

2

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28 July 2017

Marshall J

series ordinal

3

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28 July 2017

Taylor D

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 October 1986

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British Journal of Ophthalmology

28 July 2017

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28 July 2017

70

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28 July 2017

10

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28 July 2017

782-796

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External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Inherited retinal dystrophy in the rat.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case, with findings at autopsy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Autosomal dominant Kearns-Sayre syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

The Kearns-Sayre syndrome: a light and electron microscopic study.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in Spongiform encephalopathies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Urologic manifestations of Laurence-Moon-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Near-fatal Kearns-Sayre syndrome. A case report and review of clinical manifestations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Laurence-Moon-Biedl syndrome, associated with multiple genitourinary tract anomalies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Laurence-Moon-Bardet-Biedl syndrome with Stargardt's juvenile macular degeneration. Clinical and pathological study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Laurence-Moon-Bardet-Biedl Syndrome in Israel

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Pathology of Laurence-Moon-Bardet-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Retinal pathology in the Kearns-Sayre syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

The renal lesion of the Laurence-Moon-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Ageing and degeneration in the macular region: a clinico-pathological study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Mitochondrial abnormalities in progressive external ophthalmoplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Ocular changes in Lawrence Moon Bardet Biedl Syndrome: a clinical and histopathologic study of a case

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Kearns-Sayre syndrome with hypoparathyroidism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Renal histopathological changes in a child with Laurence-Moon-Biedl syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Extraocular muscle biopsy in chronic progressive external ophthalmoplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Ophthalmoplegia-plus, a real nosological entity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

The evaluation of intravenous pyelography in undescended testis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

Congenital abnormalities of the urinary system. I. A postmortem survey of developmental anomalies and acquired congenital lesions in a children's hospital.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1040828

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=1040828

Retinitis pigmentosa: a quantitative study of the apical membrane of normal and dystrophic human retinal pigment epithelial cells in tissue culture in relation to phagocytosis

30 October 2018

1 reference

12 December 2020

Retinitis pigmentosa: a preliminary report on tissue culture studies of retinal pigment epithelial cells from eight affected human eyes

1 reference

12 December 2020

Orbicularis oculi muscle in chronic progressive external ophthalmoplegia

1 reference

12 December 2020

The Laurence-Moon-Biedl syndrome

1 reference

12 December 2020

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

1 reference

12 December 2020

[Electron microscopic findings in 3 cases of chronic progressive ocular muscular dystrophy]

1 reference

12 December 2020

The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study

1 reference

12 December 2020

The mitochondrial disorders : pathogenesis and aetiological classification

1 reference

12 December 2020

Inherited Retinal Dystrophy: Primary Defect in Pigment Epithelium Determined with Experimental Rat Chimeras

1 reference

12 December 2020

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure

1 reference

12 December 2020

Experimental chimeras: a new approach to the study of inherited retinal degeneration in laboratory animals

1 reference

12 December 2020

Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy

1 reference

12 December 2020

Kearns-Sayre syndrome or ophthalmoplegia-plus? To lump or to split?

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.70.10.782

1 reference

28 July 2017

1 reference

28 July 2017

1 reference