(Q54656854)

2 June 2018

title

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. (English)

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2 June 2018

intermediate spinal muscular atrophy

main subject

spinal muscular atrophy

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1

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2 June 2018

Josep Gamez

5

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2 June 2018

author name string

M J Barceló

2

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2 June 2018

R Rojas-García

3

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2 June 2018

I Illa

4

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2 June 2018

C Cervera

6

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2 June 2018

A Pou

7

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2 June 2018

G Izquierdo

8

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2 June 2018

M Baiget

9

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2 June 2018

E F Tizzano

10

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2 June 2018

publication date

28 June 2005

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2 June 2018

published in

Journal of Neurology

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2 June 2018

volume

253

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2 June 2018

issue

1

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2 June 2018

page(s)

21-25

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2 June 2018

https://scigraph.springernature.com/pub.10.1007/s00415-005-0912-y

exact match

0 references

cites work

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-005-0912-Y

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

12 December 2020

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

1 reference

12 December 2020

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

12 December 2020

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

1 reference

12 December 2020

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

1 reference

12 December 2020

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

12 December 2020

The nosology of the spinal muscular atrophies

1 reference

12 December 2020

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

12 December 2020

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

1 reference

12 December 2020

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

10.1007/S00415-005-0912-Y

Identifiers

DOI

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2 June 2018

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2 June 2018