Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease (Q33677204)

28 July 2017

title

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease (English)

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28 July 2017

main subject

Werdnig–Hoffmann disease

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6

Munnich A

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28 July 2017

7

Melki J

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28 July 2017

Burlet P

1

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28 July 2017

Bürglen L

2

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28 July 2017

Clermont O

3

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28 July 2017

Lefebvre S

4

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28 July 2017

Viollet L

5

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28 July 2017

language of work or name

English

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publication date

1 April 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

4

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28 July 2017

page(s)

281-283

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

28 July 2017

cites work

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Identification and characterization of a spinal muscular atrophy-determining gene

21 June 2018

1 reference

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A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

21 June 2018

1 reference

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SOX9 and the switch hitting genes

21 June 2018

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A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050575

Deletions of the survival motor neuron gene in unaffected siblings of patients with 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=1050575

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050575

A hungarian study on Werdnig-Hoffmann disease

21 June 2018

1 reference

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

21 June 2018

1 reference

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Motor nerve conduction velocity in spinal muscular atrophy of childhood

21 June 2018

1 reference

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Incidence, prevalence, and gene frequency studies of chronic childhood 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=1050575

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive 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=1050575

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

30 October 2018

1 reference

12 December 2020

Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases

1 reference

12 December 2020

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

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12 December 2020

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

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12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

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12 December 2020

Identifiers

DOI

10.1136/JMG.33.4.281

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28 July 2017

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28 July 2017

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