(Q28177632)

1

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Carla Angelozzi

2

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Francesco D Tiziano

3

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Tiziana Vitali

4

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Eleonora De Vincenzi

5

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Alma Boninsegna

6

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Marcello Villanova

7

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Antonella Pini

9

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Giovanni Neri

10

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Christina Brahe

European Journal of Human Genetics

11

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language of work or name

English

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publication date

January 2004

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published in

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volume

12

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issue

1

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page(s)

59-65

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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.5201102

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/10.1038%2FSJ.EJHG.5201102

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

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/10.1038%2FSJ.EJHG.5201102

Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

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.5201102

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.5201102

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

A placebo-controlled trial of gabapentin in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

Pilot trial of albuterol in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

Long-term treatment of girls with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

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.5201102

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.5201102

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

7 January 2021

Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201102

7 January 2021