(Q80863125)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Unaffected patients with a homozygous absence of the SMN1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

10

1 reference

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Irena Hausmanowa-Petrusewicz

4 January 2020

11

object named as

Irena Hausmanowa-Petrusewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Anna Kostera-Pruszczyk

4

object named as

Anna Kostera-Pruszczyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

3

Janusz Zimowski

1 reference

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4 January 2020

9

Walenty Nyka

1 reference

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4 January 2020

author name string

Maria Jedrzejowska

1

1 reference

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4 January 2020

Janina Borkowska

2

1 reference

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4 January 2020

Michał Milewski

5

1 reference

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4 January 2020

Marta Jurek

6

1 reference

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4 January 2020

Danuta Sielska

7

1 reference

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4 January 2020

Ewa Kostyk

8

1 reference

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4 January 2020

publication date

12 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

4 January 2020

published in

1 reference

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4 January 2020

volume

16

1 reference

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4 January 2020

issue

8

1 reference

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4 January 2020

page(s)

930-934

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.41

4 January 2020

exact match

0 references

cites work

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Genetic basis of adult-onset spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Macromolecular complexes: SMN--the master assembler

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Best practice guidelines for molecular analysis in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Electromyographic studies in parents of children with spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.41

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337729%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference