(Q28291453)

5

object named as

Anna Maria Pinto

0 references

Enrico Bertini

object named as

Enrico Bertini

8

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author name string

Christina Brahe

1

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Tiziana Vitali

2

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Francesco D Tiziano

3

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Carla Angelozzi

4

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Federica Borgo

6

0 references

Umberto Moscato

7

0 references

Giovanni Neri

European Journal of Human Genetics

10

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language of work or name

English

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publication date

February 2005

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published in

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volume

13

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issue

2

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page(s)

256-9

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cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

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/10.1038%2FSJ.EJHG.5201320

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Pilot trial of phenylbutyrate in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Intraclass correlations: uses in assessing rater reliability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Long-term treatment of girls with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Pharmacokinetics and cerebrospinal fluid penetration of phenylacetate and phenylbutyrate in the nonhuman primate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Reliability of hand-held dynamometry in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201320