(Q37038243)

17 August 2017

Progressive myoclonic epilepsy due to Gaucher's disease in an adult (English)

1 reference

17 August 2017

1 reference

1 reference

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

23 October 2023

author name string

J. O. King

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1185223

30 August 2022

language of work or name

English

0 references

publication date

1 September 1975

1 reference

PMC publication ID

492113

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC492113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1185223

https://europepmc.org/articles/PMC492113?pdf=render

30 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%3A1185223

https://jnnp.bmj.com/content/jnnp/38/9/849.full.pdf

30 August 2022

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%3A1185223

https://syndication.highwire.org/content/doi/10.1136/jnnp.38.9.849

23 October 2023

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

Journal of Neurology, Neurosurgery and Psychiatry

23 October 2023

published in

1 reference

17 August 2017

38

1 reference

17 August 2017

9

1 reference

17 August 2017

849-854

1 reference

A case of juvenile Gaucher's disease with intraneuronal lipid storage

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Progressive myoclonus epilepsy without Lafora bodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Gaucher's disease. Review of the literature and report of twelve new cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Presidential address: Studies in the neuronal ceroid-lipofuscinoses.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Clonazepam (Ro 5-4023) in the treatment of myoclonus epilepsy. Four case reports.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

AN ATROPHIC TYPE OF AMAUROTIC IDIOCY REPORT OF TWO CASES

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Neurological signs in a juvenile form of Gaucher's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Generalized gangliosidosis: beta-galactosidase deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492113

Gaucher cells in chronic myelocytic leukemia: an acquired abnormality

4 September 2018

1 reference

12 December 2020

[Histochemical studies on globoid bodies in Krabbe's familial infantile diffuse sclerosis, with a contribution on the differential diagnosis of central nervous system changes in Gaucher's disease]

1 reference

12 December 2020

A CASE OF LATE INFANTILE AMAUROTIC IDIOCY OF THE MYOCLONUS TYPE

1 reference

12 December 2020

[Gaucher's disease in Norrbotten.]

1 reference

12 December 2020

A case of amaurotic family idiocy with lipid storage disease of bone

1 reference

12 December 2020

The neuropathology of infantile Gaucher's disease

1 reference

12 December 2020

[Tay-Sachs familial infantile idiocy of myoclonic and epileptic form in 2 brothers; clinical, anatomo-pathological and hereditary aspects]

1 reference

12 December 2020

Gaucher's disease with ascites: a case report with autopsy findings

1 reference

12 December 2020

[Pathogenesis of the degeneration of conduction systems in amaurotic idocy, and the problem of its relation to myoclonus epilepsy]

1 reference

12 December 2020

Gaucher's Disease: Neurologic Disorder in Adult Siblings

1 reference

12 December 2020

Diffuse liplfuscinosis of the central nervous system

1 reference

12 December 2020

The lipidoses and the central nervous system.

1

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

Cerebral Evoked Potentials in Familial Progressive Myoclonic Epilepsy

23 October 2023

12

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

DYSSYNERGIA CEREBELLARIS MYOCLONICA—PRIMARY ATROPHY OF THE DENTATE SYSTEM: A CONTRIBUTION TO THE PATHOLOGY AND SYMPTOMATOLOGY OF THE CEREBELLUM

23 October 2023

17

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

Beitrag zur Histopathologie der myoklonischen Epilepsie

23 October 2023

20

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

Gaucher's disease without splenomegaly

23 October 2023

31

1 reference

https://api.crossref.org/works/10.1136/JNNP.38.9.849

23 October 2023

Identifiers

1 reference

17 August 2017

1 reference

PMC publication ID

492113

17 August 2017

1 reference

PMC publication ID

492113