Spinal muscular atrophy: a time for screening (Q34623310)

3 August 2017

title

Spinal muscular atrophy: a time for screening (English)

1 reference

3 August 2017

main subject

spinal muscular atrophy

1 reference

1 reference

Thomas W. Prior

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20829691

10 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20829691

10 July 2024

publication date

1 December 2010

1 reference

full work available at URL

3 August 2017

https://journals.lww.com/10.1097/MOP.0b013e32833f3046

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Current Opinion in Pediatrics

10 July 2024

published in

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3 August 2017

volume

22

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3 August 2017

issue

6

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3 August 2017

page(s)

696-702

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

3 August 2017

cites work

1 reference

12 January 2024

https://opencitations.net/index/api/v1/citations/10.1038/NBT.1610

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

1

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Carrier screening for spinal muscular atrophy

10 July 2024

2

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

4

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives

10 July 2024

5

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

6

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Identification and characterization of a spinal muscular atrophy-determining gene

10 July 2024

7

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

8

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

10 July 2024

9

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

10

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

11

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

12

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

A mouse model for spinal muscular atrophy

10 July 2024

14

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Animal models of spinal muscular atrophy

10 July 2024

15

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

10 July 2024

16

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

10 July 2024

17

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

10 July 2024

18

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

10 July 2024

19

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

A positive modifier of spinal muscular atrophy in the SMN2 gene

10 July 2024

20

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Correlation between severity and SMN protein level in spinal muscular atrophy

10 July 2024

21

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

The survival motor neuron protein in spinal muscular atrophy

10 July 2024

22

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

10 July 2024

23

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Why do cells need an assembly machine for RNA-protein complexes?

10 July 2024

24

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

10 July 2024

25

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

10 July 2024

27

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

10 July 2024

28

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Valproic acid treatment in six patients with spinal muscular atrophy

10 July 2024

29

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Phase II open label study of valproic acid in spinal muscular atrophy

10 July 2024

30

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

10 July 2024

31

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

The changing natural history of spinal muscular atrophy type 1

10 July 2024

33

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

10 July 2024

34

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

10 July 2024

35

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Newborn and carrier screening for spinal muscular atrophy

10 July 2024

36

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

37

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

10 July 2024

38

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Differences in SMN1 allele frequencies among ethnic groups within North America

10 July 2024

39

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact

10 July 2024

40

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

41

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

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

10 July 2024

42

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

Population screening and cascade testing for carriers of SMA

10 July 2024

43

1 reference

https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

ACOG committee opinion No. 432: spinal muscular atrophy

10 July 2024

44

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https://api.crossref.org/works/10.1097/MOP.0B013E32833F3046

10 July 2024

Identifiers

1 reference

3 August 2017

1 reference