(Q35115281)

6 August 2017

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

1 reference

6 August 2017

J. Egger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305411

25 April 2024

B. D. Lake

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305411

25 April 2024

J. Wilson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305411

25 April 2024

language of work or name

English

0 references

publication date

1 October 1981

1 reference

full work available at URL

6 August 2017

https://adc.bmj.com/content/56/10/741.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305411

https://europepmc.org/articles/PMC1627326

25 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305411

https://europepmc.org/articles/PMC1627326?pdf=render

25 April 2024

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%3A7305411

https://syndication.highwire.org/content/doi/10.1136/adc.56.10.741

25 April 2024

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

Archives of Disease in Childhood

25 April 2024

published in

1 reference

6 August 2017

56

1 reference

6 August 2017

10

1 reference

6 August 2017

741-752

1 reference

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Diabetes mellitus in a child showing features of Refsum's syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Diagnosis of Leigh's disease questioned defended

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Chronic lactic acidosis in association with myopathy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Neurodegenerative disorders and hyperaldosteronism.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Neurological associations of chronic heart block

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Kearns-Sayre syndrome: the importance of early recognition

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Oculocraniosomatic neuromuscular disease with hypoparathyroidism.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Ocular myopathy (progressive external ophthalmoplegia) with neuropathic complications

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Leukoencephalopathy in oculocraniosomatic neuromuscular disease with ragged-red fibers. Mitochondrial abnormalities demonstrated by computerized tomography

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Familial Kearns-Sayre syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Ophthalmoplegia-plus, a real nosological entity

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Mitochondrial myopathy with multisystem abnormalities and normal ocular movements

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

The early effects of ischemia upon skeletal muscle mitochondria

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Cardiac abnormalities in chronic progressive external ophthalmoplegia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Progressive dystrophy of the external ocular muscles (ocular myopathy).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND MUSCULARDYSTROPHY

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Atypical muscle mitochondria in oculoskeletal myopathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627326

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

16 November 2018

1 reference

12 December 2020

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

1 reference

12 December 2020

Familial progressive external ophthalmoplegia with abnormal muscle mitochondria

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia

1 reference

12 December 2020

Neuropathy and mitochondrial myopathy

1 reference

12 December 2020

The hematopoietic microenvironment

1 reference

12 December 2020

Bone-marrow microenvironment defect in congenital hypoplastic anemia

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case

1 reference

12 December 2020

Kearns' syndrome (author's transl)

1 reference

12 December 2020

Case of oculocraniosomatic neuromuscular disease associated with parkinsonism with special reference to catecholamine metabolism

1 reference

12 December 2020

Progressive ocular myopathy with ovarian insufficiency and diabetes mellitus. Report of a case

1 reference

12 December 2020

Clinical correlations of partial deficiency of lipoamide dehydrogenase

1 reference

12 December 2020

Familial progressive external ophthalmoplegia and ragged-red fibers

1 reference

12 December 2020

Anatomo-clinical study of a case of "ophthalmoplegia plus" with analysis of muscular, central nervous, ocular, myocardial, and thyroid lesions

1 reference

12 December 2020

Kearns-Sayre syndrome and hypoparathyroidism

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

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics

1 reference

12 December 2020

[Juvenile cerebral spongiosis]

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial Myopathy With Abnormal Muscle Mitochondria

1 reference

12 December 2020

Kearns' syndrome: a case study (author's transl)

1 reference

12 December 2020

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

3

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

Myopathies with abnormal mitochondria. A clinical, histological, and electrophysiological study

25 April 2024

14

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

Archives francaises de pediatrie

25 April 2024

25

37

119

Voisin, M.; Marty-Double, C.; Grolleau, R.; Bassius, C.; Dumas, R.; de Kearns, Jean R.Syndrome

publication date

1980

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

Basal Ganglia Calcification in Kearns-Sayre Syndrome

25 April 2024

42

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

Muscle disorders in the floppy child

25 April 2024

70

1 reference

https://api.crossref.org/works/10.1136/ADC.56.10.741

25 April 2024

Identifiers

1 reference

6 August 2017

1 reference

6 August 2017

1 reference