Natural history of denervation in SMA: relation to age, SMN2 copy number, and function (Q35101830)

6 August 2017

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

1 reference

6 August 2017

1

Kathryn J Swoboda

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6 August 2017

Thomas W Prior

2

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6 August 2017

Charles B Scott

3

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6 August 2017

Teresa P McNaught

4

1 reference

6 August 2017

Mark C Wride

5

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6 August 2017

Sandra P Reyna

6

1 reference

6 August 2017

Mark B Bromberg

7

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6 August 2017

1 May 2005

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6 August 2017

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6 August 2017

57

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6 August 2017

704-712

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6 August 2017

5

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Treatment of spinal muscular atrophy by sodium butyrate

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Correlation between severity and SMN protein level in spinal muscular atrophy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

The neurobiology of childhood spinal muscular atrophy.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

The genetic component in child mortality

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

A hungarian study on Werdnig-Hoffmann disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Population frequencies of inherited neuromuscular diseases—A world survey

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Small-sample adjustments in using the sandwich variance estimator in generalized estimating equations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Motor unit number estimation in infants and children with spinal muscular atrophy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Chaos in the classification of SMA: a possible resolution.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334582

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

27 September 2018

1 reference

12 December 2020

The estimated numbers and relative sizes of thenar motor units as selected by multiple point stimulation in young and older adults

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Peripheral motor and sensory nerve conduction studies in normal infants and children

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.20473

1 reference

6 August 2017

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6 August 2017

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