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 (Q38362075)

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English	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	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 September 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

spinal muscular atrophy

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based on heuristic

inferred from title

muscular atrophy

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based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

Velasco E

1

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Valero C

2

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Europe PubMed Central

PubMed publication ID

2 September 2017

Valero A

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Moreno F

4

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Europe PubMed Central

PubMed publication ID

2 September 2017

Hernández-Chico C

5

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Europe PubMed Central

PubMed publication ID

2 September 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 February 1996

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Europe PubMed Central

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2 September 2017

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

2 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

257-263

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Europe PubMed Central

PubMed publication ID

2 September 2017

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

High resolution physical map of the region surrounding the spinal muscular atrophy gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Cell death during development of the nervous system

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

The head involution defective gene of Drosophila melanogaster functions in programmed cell death

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.2.257

21 January 2018

Identifiers

10.1093/HMG/5.2.257

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

ResearchGate publication ID

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