(Q28271235)

2

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Anja Förster

3

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Miriam Jakubik

4

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Jan Hauke

5

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Lutz Garbes

6

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Ina Fritzsche

7

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Ylva Mende

8

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Ingmar Blumcke

9

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Eric Hahnen

10

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Brunhilde Wirth

Clinical outcome measures in spinal muscular atrophy

11

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language of work or name

English

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publication date

15 April 2010

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published in

Human Molecular Genetics

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volume

19

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issue

8

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page(s)

1492-506

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

The role of histone acetylation in SMN gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Histone deacetylase inhibitors: possible implications for neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Suberoylanilide hydroxamic acid (SAHA) has potent anti-glioma properties in vitro, ex vivo and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Vascular perfusion abnormalities in infants with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Valproic acid teratogenicity: a toxicogenomics approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Teratogenicity of sodium valproate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Increased rate of major malformations in offspring exposed to valproate during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Regulation of SMN protein stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Phase 2 trial of oral vorinostat (suberoylanilide hydroxamic acid, SAHA) for refractory cutaneous T-cell lymphoma (CTCL)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

Drug discovery for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ023

21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ023

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

20097677

1 reference

Consolidated OpenCitations Corpus – April 2017