Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. (Q33869164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28676062%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

review article

1 reference

title

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28676062%20AND%20SRC:MED&resulttype=core&format=json

spinal muscular atrophies

24 March 2020

main subject

1 reference

25 April 2019

spinal muscular atrophy

1 reference

1 reference

1

1 reference

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24 March 2020

Annemieke Aartsma-Rus

4

1 reference

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24 March 2020

Hanns Lochmüller

8

1 reference

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24 March 2020

author name string

Agata Robertson

2

1 reference

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24 March 2020

Ian J Wilson

3

1 reference

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24 March 2020

Shona Cameron

5

1 reference

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24 March 2020

Cynthia C Jones

6

1 reference

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24 March 2020

Suzanne F Cook

7

1 reference

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24 March 2020

language of work or name

1 reference

4 July 2017

2 references

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28676062%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

24 March 2020

published in

2 references

25 April 2019

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24 March 2020

volume

12

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24 March 2020

issue

1

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24 March 2020

page(s)

124

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Creative Commons Attribution 4.0 International

24 March 2020

copyright license

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on focus list of Wikimedia project

25 April 2019

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

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Epidemiology of Neuromuscular Diseases, Including the Postpolio Sequelae, in a Swedish County

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Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island

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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

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Genetic risk assessment in carrier testing for spinal muscular atrophy

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High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel

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Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes

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Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

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Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

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Large-scale population screening for spinal muscular atrophy: clinical implications

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SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

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Single-gene neurological disorders in South Wales: an epidemiological study

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Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification

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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

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Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

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12 December 2020

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

12 December 2020

Technical standards and guidelines for spinal muscular atrophy testing

1 reference

12 December 2020

Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups

1 reference

12 December 2020

Detection of spinal muscular atrophy carriers in a sample of the Brazilian population

1 reference

12 December 2020

Descriptive epidemiology of selected neurologic and myopathic disorders with particular reference to a survey in Rochester, Minnesota

1 reference

12 December 2020

Population screening and cascade testing for carriers of SMA

1 reference

12 December 2020

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

12 December 2020

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

1 reference

12 December 2020

Unaffected patients with a homozygous absence of the SMN1 gene

1 reference

12 December 2020

Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to "non-Duchenne muscular dystrophy"

1 reference

12 December 2020

10.1186/S13023-017-0671-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28676062%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 March 2020

1 reference

https://scigraph.springernature.com/pub.10.1186/s13023-017-0671-8

9 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28676062%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

PubMed publication ID

28676062

1 reference