(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

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

24 March 2020

Annemieke Aartsma-Rus

4

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

Hanns Lochmüller

8

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

author name string

Agata Robertson

2

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

Ian J Wilson

3

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

Shona Cameron

5

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

Cynthia C Jones

6

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

Suzanne F Cook

7

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

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

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

24 March 2020

volume

12

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

issue

1

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

page(s)

124

1 reference

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

Creative Commons Attribution 4.0 International

24 March 2020

copyright license

1 reference

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

5 July 2018

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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

5 July 2018

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Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

5 July 2018

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Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.

5 July 2018

1 reference

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Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.

5 July 2018

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The Israeli national population program of genetic carrier screening for reproductive purposes

5 July 2018

1 reference

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Observational study of spinal muscular atrophy type I and implications for clinical trials.

5 July 2018

1 reference

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SMA carrier testing: a meta-analysis of differences in test performance by ethnic group

5 July 2018

1 reference

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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

5 July 2018

1 reference

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How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

5 July 2018

1 reference

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Childhood spinal muscular atrophy: controversies and challenges

5 July 2018

1 reference

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Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

5 July 2018

1 reference

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Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns

5 July 2018

1 reference

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Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

5 July 2018

1 reference

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

5 July 2018

Spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

The changing natural history of spinal muscular atrophy type 1

5 July 2018

1 reference

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Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Spinal muscular atrophy: molecular genetics and diagnostics.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Determination of SMN1 and SMN2 copy number using TaqMan technology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Spinal muscular atrophy genetic testing experience at an academic medical center.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Structure and organization of the human survival motor neurone (SMN) gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

A community survey of neurological disorders in Saudi Arabia: the Thugbah study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Genetics of childhood spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

The infantile proximal spinal muscular atrophies in Switzerland

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

A clinical, epidemiological and genetic study of hereditary motor neuropathies in Benghazi, Libya

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

A hungarian study on Werdnig-Hoffmann disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Population frequencies of inherited neuromuscular diseases—A world survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Prevalence of type I spinal muscular atrophy in North Dakota

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Descriptive epidemiology of spinal muscular atrophy type I in Estonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Spinal muscular atrophy: survival pattern and functional status

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

The molecular basis of spinal muscular atrophy (SMA) in South African black patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Carrier incidence for spinal muscular atrophy in southern Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Genetic testing of sperm donors for cystic fibrosis and spinal muscular atrophy: evaluation of clinical utility

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Spinal muscular atrophy. Incidence in Iceland

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Incidence of spinal muscular atrophy and Duchenne's muscular dystrophy in the juvenile population of central Slovakia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496354

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

29 October 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

Carrier screening for spinal muscular atrophy in Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0671-8

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

1 reference

12 December 2020

Prevalence of Neuromuscular Diseases in Chinese Children: A Study in Southern China

1 reference

12 December 2020

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

1 reference

12 December 2020

Newborn and carrier screening for spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

12 December 2020

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

1 reference

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