(Q24599124)

12

0 references

Adele D'Amico

9

0 references

Enrico Bertini

11

0 references

Anna Maria Pinto

2

object named as

Anna Maria Pinto

0 references

Sonia Messina

5

object named as

Sonia Messina

0 references

author name string

Francesco Danilo Tiziano

1

0 references

Stefania Fiori

3

0 references

Rosa Lomastro

4

0 references

Claudio Bruno

6

0 references

Antonella Pini

7

0 references

Marika Pane

8

0 references

Alessandro Ghezzo

10

0 references

Giovanni Neri

13

0 references

Christina Brahe

European Journal of Human Genetics

14

0 references

language of work or name

English

0 references

publication date

January 2010

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published in

0 references

volume

18

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issue

1

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page(s)

52-8

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cites work

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Daily salbutamol in young patients with SMA type II

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Identification and characterization of a spinal muscular atrophy-determining gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

A novel cell immunoassay to measure survival of motor neurons protein in blood cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Treatment of spinal muscular atrophy by sodium butyrate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

The survival motor neuron protein in spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

Correlation between severity and SMN protein level in spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.116

The effect of hydroxyurea in spinal muscular atrophy cells and patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.116

TaqMan amplification system with an internal positive control for HCV RNA quantitation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.116

Tissue-specific expression pattern of bovine prion gene: quantification using real-time RT-PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.116

Plasma RNA viral load in HIV-1 group O infection by real-time PCR.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987170

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

28 November 2018

1 reference

12 December 2020

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020