(Q24311585)

Small EDRK-rich factor 1A

inferred from title

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nervous system development

GOA release 2020-03-11

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ORCID Public Data File 2021

GOA release 2020-03-11

1 reference

1 reference

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author name string

J M Scharf

1

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M G Endrizzi

2

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A Wetter

3

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S Huang

4

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T G Thompson

5

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K Zerres

6

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W F Dietrich

7

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B Wirth

8

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L M Kunkel

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

9

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language of work or name

English

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publication date

September 1998

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published in

Nature Genetics

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volume

20

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page(s)

83-6

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issue

1

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cites work

1 reference

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.

21 January 2018

1 reference

Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors

21 January 2018

1 reference

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

1 reference

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

21 January 2018

1 reference

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

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

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

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

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

21 January 2018

1 reference

Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

21 January 2018

1 reference

Genotator: a workbench for sequence annotation

21 January 2018

1 reference

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

21 January 2018

1 reference

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

7 January 2021

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

1 reference

7 January 2021

Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity

1 reference

7 January 2021

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

1 reference

7 January 2021

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

1 reference

7 January 2021