Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. (Q44844914)

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18 January 2020

title

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients (English)

1 reference

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18 January 2020

main subject

spinal muscular atrophy

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1

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18 January 2020

Bernard Sablonniere

5

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18 January 2020

author name string

Jean-Marie Cuisset

2

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18 January 2020

Nathalie Rouaix-Emery

3

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18 January 2020

Claude Cancés

4

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18 January 2020

Eric Bieth

6

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18 January 2020

Alexandre Moerman

7

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18 January 2020

Sylvie Sukno

8

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18 January 2020

Noah Hardy

9

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18 January 2020

Muriel Holder-Espinasse

10

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18 January 2020

Sylvie Manouvrier-Hanu

11

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18 January 2020

Louis Vallée

12

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18 January 2020

publication date

1 January 2011

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18 January 2020

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18 January 2020

volume

43

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18 January 2020

issue

1

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18 January 2020

page(s)

26-30

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Identification and characterization of a spinal muscular atrophy-determining gene

18 January 2020

cites work

1 reference

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

21 January 2018

1 reference

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

21 January 2018

1 reference

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

21 January 2018

1 reference

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

21 January 2018

1 reference

Survival in SMA type I: a prospective analysis of 34 consecutive cases

21 January 2018

1 reference

The changing natural history of spinal muscular atrophy type 1

21 January 2018

1 reference

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

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

21 January 2018

1 reference

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

21 January 2018

1 reference

Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene

21 January 2018

1 reference

Presymptomatic diagnosis of SMA III by genotype analysis

21 January 2018

1 reference

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

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