Spinal muscular atrophy (Q55982486)

https://scigraph.springernature.com/pub.10.1016/j.nurt.2008.08.007

Europe PubMed Central

title

Spinal muscular atrophy (English)

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main subject

spinal muscular atrophy

1 reference

1 reference

Maryam Oskoui

1

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Petra Kaufmann

series ordinal

2

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language of work or name

English

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publication date

October 2008

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published in

Neurotherapeutics

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volume

5

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issue

4

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page(s)

499-506

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exact match

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cites work

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Use of power mobility for a young child with spinal muscular atrophy.

12 August 2018

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12 August 2018

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12 August 2018

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Directed differentiation of embryonic stem cells into motor neurons

12 August 2018

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12 August 2018

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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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

A placebo-controlled trial of gabapentin in spinal muscular atrophy

12 August 2018

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12 August 2018

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12 August 2018

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A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report

12 August 2018

2 references

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12 August 2018

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.007

Spinal muscular atrophy type 1: A noninvasive respiratory management approach

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

Cognitive predictors of young children's readiness for powered mobility

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

A novel nuclear structure containing the survival of motor neurons protein

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, The Netherlands, 10-12 March 1995.

12 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

Identification and characterization of a spinal muscular atrophy-determining gene

12 August 2018

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

A Randomized, Placebo-Controlled Trial of Creatine in Children With Spinal Muscular Atrophy

12 August 2018

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Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.007

Motor function-muscle strength relationship in spinal muscular atrophy

21 January 2018

2 references

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.007

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514700

Excellent inter‐rater, intra‐rater, and telephone‐administered reliability of the ALSFRS‐R in a multicenter clinical trial

2 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.007

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.007

Gemins modulate the expression and activity of the SMN complex

21 January 2018

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12 December 2020

Clinical advances in pediatric hematology & oncology: cooperative group research

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12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

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12 December 2020

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

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12 December 2020

Spinal muscular atrophy

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12 December 2020

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

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12 December 2020

Clinical and functional evaluation of a gaze controlled system for the severely handicapped

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12 December 2020

10.1016/J.NURT.2008.08.007

Identifiers

DOI

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Dimensions Publication ID

1023587226

0 references

Fatcat ID

release_zbfhwnebgraxpi4yyhaoodpmka

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zbfhwnebgraxpi4yyhaoodpmka

24 November 2022