A multi-source approach to determine SMA incidence and research ready population (Q33885457)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28634652 AND SRC:MED&resulttype=core&format=json

23 March 2020

title

A multi-source approach to determine SMA incidence and research ready population (English)

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23 March 2020

1

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23 March 2020

Janbernd Kirschner

6

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23 March 2020

Hanns Lochmüller

9

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23 March 2020

author name string

Agata Robertson

2

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23 March 2020

Rebecca Leary

3

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23 March 2020

Grace McMacken

4

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23 March 2020

Kirsten König

5

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23 March 2020

Cynthia C Jones

7

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23 March 2020

Suzanne F Cook

8

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23 March 2020

publication date

20 June 2017

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23 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28634652 AND SRC:MED&resulttype=core&format=json

23 March 2020

volume

264

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23 March 2020

issue

7

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23 March 2020

page(s)

1465-1473

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Creative Commons Attribution 4.0 International

23 March 2020

copyright license

start time

20 June 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

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The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

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

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

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The changing natural history of spinal muscular atrophy type 1

5 July 2018

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy

5 July 2018

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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

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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

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Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

5 July 2018

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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

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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

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

5 July 2018

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

5 July 2018

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Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

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Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

5 July 2018

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

5 July 2018

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

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Descriptive epidemiology of spinal muscular atrophy type I in Estonia

21 January 2018

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Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

21 January 2018

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

21 January 2018

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

21 January 2018

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12 December 2020

Carrier frequency of spinal muscular atrophy

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12 December 2020

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

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12 December 2020

Newborn and carrier screening for spinal muscular atrophy

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12 December 2020

Unaffected patients with a homozygous absence of the SMN1 gene

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28634652 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

23 March 2020

0 references

1 reference

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23 March 2020

PubMed publication ID

28634652

1 reference