(Q33628575)

English

Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

cerebellar ataxia

1 reference

based on heuristic

inferred from title

muscle weakness

1 reference

based on heuristic

inferred from title

Supranuclear ophthalmoplegia

1 reference

based on heuristic

inferred from title

author name string

Harding AE

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Young EP

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Schon F

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 June 1987

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

50

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

687-690

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Cerebrospinal fluid: A selective review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Adult-onset GM2 gangliosidosis Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

14 July 2018

Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032071

30 October 2018

Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/2956362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.50.6.687

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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