(Q73161752)

English

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

scientific article published on 01 January 1997

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1 November 2019

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings (English)

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Europe PubMed Central

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1 November 2019

cerebellar ataxia

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E Hund

1

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1 November 2019

A Grau

2

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1 November 2019

W Fogel

3

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1 November 2019

M Forsting

4

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1 November 2019

M Cantz

5

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1 November 2019

B Kustermann-Kuhn

6

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1 November 2019

K Harzer

7

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1 November 2019

R Navon

8

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1 November 2019

H H Goebel

9

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1 November 2019

H M Meinck

10

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1 November 2019

publication date

1 January 1997

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1 November 2019

Journal of the Neurological Sciences

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1 November 2019

145

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1 November 2019

1

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1 November 2019

25-31

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1 November 2019

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

1 reference

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7 January 2021

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B

1 reference

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7 January 2021

Fine structure of cutaneous nerves in ganglioside storage disease

1 reference

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7 January 2021

The Clinical Aspects of Adult Hexosaminidase Deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Hexosaminidase A activity and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Hexosaminidase A deficiency presenting as juvenile progressive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Parkinsonism in adult-onset GM2 gangliosidosis

1 reference

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7 January 2021

Motor neuron diseases resulting from hexosaminidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia: Clinical and biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Post-partum psychosis in adult GM2 gangliosidosis. A case report

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Hexosaminidase A deficiency in adults

1 reference

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7 January 2021

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

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7 January 2021

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

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

1 reference

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7 January 2021

Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis

1 reference

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7 January 2021

The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900233-X

7 January 2021

Brain imaging in late-onset GM2 gangliosidosis

1 reference

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7 January 2021

Neuropathology of late onset gangliosidoses. A review

1 reference

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7 January 2021

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

1 reference

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7 January 2021

Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Identifiers

10.1016/S0022-510X(96)00233-X

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9073025%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9073025%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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