(Q46969503)

27 December 2017

title

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

1 reference

27 December 2017

main subject

patient

0 references

spinal muscular atrophy

1 reference

1 reference

4

1 reference

27 December 2017

author name string

B Wirth

1

1 reference

27 December 2017

L Brichta

2

1 reference

27 December 2017

B Schrank

3

1 reference

27 December 2017

S Blick

5

1 reference

27 December 2017

A Baasner

6

1 reference

27 December 2017

R Heller

7

1 reference

27 December 2017

publication date

1 March 2006

1 reference

27 December 2017

published in

Human Genetics

1 reference

27 December 2017

volume

119

1 reference

27 December 2017

issue

4

1 reference

27 December 2017

page(s)

422-428

1 reference

27 December 2017

https://scigraph.springernature.com/pub.10.1007/s00439-006-0156-7

exact match

0 references

cites work

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-006-0156-7

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

21 January 2018

1 reference

12 December 2020

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

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

1 reference

12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

12 December 2020

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.

1 reference

12 December 2020

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

1 reference

12 December 2020

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

12 December 2020

Presymptomatic diagnosis of SMA III by genotype analysis

1 reference

12 December 2020

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives

1 reference

12 December 2020

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

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

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

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

1 reference

12 December 2020

Involvement of survival motor neuron (SMN) protein in cell death

1 reference

12 December 2020

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

1 reference

12 December 2020

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

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

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

1 reference

12 December 2020

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

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

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

1 reference

12 December 2020

Survival motor neuron protein modulates neuron-specific apoptosis

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

1 reference

12 December 2020

Genetic basis of adult-onset spinal muscular atrophy

1 reference

12 December 2020

SMN gene deletions in adult-onset spinal muscular atrophy

1 reference

12 December 2020

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

1 reference

12 December 2020

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

1 reference

12 December 2020

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

12 December 2020

10.1007/S00439-006-0156-7

Identifiers

DOI

1 reference

27 December 2017

PubMed ID

16508748

1 reference

27 December 2017