On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (Q61588546)

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scientific article published on 01 January 1994

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English	On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family	scientific article published on 01 January 1994

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

title

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (English)

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

main subject

autopsy

1 reference

based on heuristic

inferred from title

author

Marie-José Tassignon

series ordinal

9

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

author name string

J J Martin

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

N Van Regemorter

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

L Krols

series ordinal

3

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

J M Brucher

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

T de Barsy

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

H Szliwowski

series ordinal

6

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

P Evrard

series ordinal

7

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

C Ceuterick

series ordinal

8

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

H Smet-Dieleman

series ordinal

10

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

publication date

1 January 1994

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

published in

Acta Neuropathologica

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

volume

88

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

issue

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

page(s)

277-286

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stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

cites work

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. A clinical report on a family

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atrophic maculopathy associated with hereditary ataxia

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

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12 December 2020

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inferred from PubMed ID database lookup

Anatomy of the thalamus and its pathology in degenerative diseases designated as abiotrophic

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult hereditary cerebelloretinal degeneration

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary multisystemic degeneration with unusual combination of cerebellipetal, dentato-rubral, and nigro-subthalamo-pallidal degenerations

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Machado-Joseph-Azorean disease. A ten-year study

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for Machado-Joseph disease maps to human chromosome 14q

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 17th-century founder gives rise to a large north American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through six generations

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electroretinographic changes in a case of spino-cerebellar degeneration (SCD)

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial cerebro-macular degeneration and ataxia

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dentatorubropallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Joseph's disease: clinical and pathological studies in a Japanese family

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dégénérescence systématisée optico-cochléo-dentelée

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal degeneration in hereditary ataxia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies in spinocerebellar ataxia (SCA)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7839819

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00310370

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

PubMed publication ID

7839819

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7839819

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7839819%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

 

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