(Q33590760)

28 July 2017

title

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I. (English)

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28 July 2017

Cobben JM

1

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28 July 2017

de Visser M

2

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28 July 2017

Scheffer H

3

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28 July 2017

Osinga J

4

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28 July 2017

van der Steege G

5

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28 July 2017

Buys CH

6

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28 July 2017

van Ommen GJ

7

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28 July 2017

ten Kate LP

8

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28 July 2017

language of work or name

English

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publication date

1 March 1993

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

published in

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28 July 2017

volume

56

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28 July 2017

issue

3

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28 July 2017

page(s)

319-321

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The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

X-linked infantile spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Two microsatellite polymorphisms at the D5S39 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Prenatal prediction of spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014873

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

31 October 2018

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

1 reference

12 December 2020

Heterogeneity in proximal spinal muscular atrophy

1 reference

12 December 2020

Linkage analysis of spinal muscular atrophy

1 reference

12 December 2020

A case of congenital Werdnig-Hoffmann disease with glial bundles in spinal roots

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.56.3.319

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28 July 2017

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28 July 2017

1 reference