(Q38316939)

2 September 2017

A mouse model for spinal muscular atrophy (English)

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2 September 2017

spinal muscular atrophy

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Hsieh-Li HM

1

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2 September 2017

Chang JG

2

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2 September 2017

Jong YJ

3

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2 September 2017

Wu MH

4

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2 September 2017

Wang NM

5

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2 September 2017

Tsai CH

6

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2 September 2017

Li H

7

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2 September 2017

language of work or name

English

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publication date

1 January 2000

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2 September 2017

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2 September 2017

24

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2 September 2017

66-70

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2 September 2017

1

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https://scigraph.springernature.com/pub.10.1038/71709

2 September 2017

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cites work

Identification and characterization of a spinal muscular atrophy-determining gene

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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

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Werdnig-Hoffmann disease: Proposal of a pathogenetic mechanism

21 January 2018

1 reference

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron.

21 January 2018

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When is a deletion not a deletion? When it is converted

21 January 2018

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21 January 2018

Spinal muscular atrophy

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

21 January 2018

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Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues

21 January 2018

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Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated.

21 January 2018

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The survival motor neuron protein in spinal muscular atrophy

21 January 2018

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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

21 January 2018

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

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Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

21 January 2018

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Identification of survival motor neuron as a transcriptional activator-binding protein.

21 January 2018

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Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

21 January 2018

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HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

21 January 2018

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Developmental analysis of the Hba(th-J) mouse mutation: effects on mouse peri-implantation development and identification of two candidate genes.

21 January 2018

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Whole genome amplification from a single cell: implications for genetic analysis

21 January 2018

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Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells

21 January 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

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The role of the SMN gene in proximal spinal muscular atrophy

21 January 2018

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7 January 2021

Differential SMN2 expression associated with SMA severity

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7 January 2021

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 reference

7 January 2021

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents

1 reference

7 January 2021

Gsh-1, an orphan Hox gene, is required for normal pituitary development

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7 January 2021

Identifiers

DOI

10.1038/71709

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2 September 2017

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