(Q51692576)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Severe spinal muscular atrophy variant associated with congenital bone fractures (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

main subject

spinal muscular atrophy

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

7

Michael Obladen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Ursula Felderhoff-Mueser

1

object named as

Ursula Felderhoff-Mueser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

6

Christoph Bührer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Katja Grohmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Anja Harder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Klaus Zerres

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

publication date

1 September 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

16 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

9

1 reference

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16 December 2019

page(s)

718-721

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

Spinal muscular atrophy. Incidence in Iceland

16 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Anterior horn cell disease and olivopontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Spinal muscular atrophy variant with congenital fractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Dominant congenital benign spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700915

10.1177/088307380201700915

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12503654%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference