Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives (Q35677202)

9 August 2017

title

Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives (English)

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9 August 2017

main subject

spinal muscular atrophy

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1 reference

3

Kathryn J Swoboda

2 references

9 August 2017

ORCID Public Data File 2021

author name string

Candice Meldrum

series ordinal

1

1 reference

9 August 2017

Charles Scott

series ordinal

2

1 reference

9 August 2017

language of work or name

1 reference

1 August 2007

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Journal of Child Neurology

9 August 2017

published in

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9 August 2017

volume

22

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9 August 2017

issue

8

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9 August 2017

page(s)

1019-1026

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

9 August 2017

cites work

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Genetic testing and risk assessment for spinal muscular atrophy (SMA).

12 July 2018

1 reference

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The neurobiology of childhood spinal muscular atrophy.

12 July 2018

1 reference

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Structure and organization of the human survival motor neurone (SMN) gene

12 July 2018

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260047

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

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260047

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

12 July 2018

1 reference

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A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17761658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/0883073807305672

1 reference

9 August 2017

1 reference

9 August 2017

1 reference