(Q50689240)

17 March 2018

title

Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect. (English)

1 reference

17 March 2018

main subject

spinal muscular atrophy

1 reference

1 reference

Werdnig–Hoffmann disease

1 reference

1 reference

6

Tuuli Metsvaht

1 reference

17 March 2018

5

Katre Maasalu

1 reference

17 March 2018

author name string

Eve Vaidla

1

1 reference

17 March 2018

Inga Talvik

2

1 reference

17 March 2018

Andres Kulla

3

1 reference

17 March 2018

Hiljar Sibul

4

1 reference

17 March 2018

Andres Piirsoo

7

1 reference

17 March 2018

Tiina Talvik

8

1 reference

17 March 2018

publication date

1 January 2007

1 reference

17 March 2018

Journal of Child Neurology

published in

1 reference

17 March 2018

volume

22

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17 March 2018

issue

1

1 reference

17 March 2018

page(s)

67-70

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17 March 2018

Identification and characterization of a spinal muscular atrophy-determining gene

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

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%2F0883073807299954

Spinal muscular atrophy variant with congenital fractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

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%2F0883073807299954

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

Severe spinal muscular atrophy variant associated with congenital bone fractures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

Bone's mechanostat: A 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

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%2F0883073807299954

Spinal muscular atrophy with congenital fractures: postmortem analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

Rubrospinal neurons fail to respond to brain-derived neurotrophic factor applied to the spinal cord injury site 2 months after cervical axotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

Chronically injured supraspinal neurons exhibit only modest axonal dieback in response to a cervical hemisection lesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807299954

21 January 2018

Identifiers

DOI

10.1177/0883073807299954

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d6sg2qj2hrgdnpcojq3pjvlh2a

mapped directly with Wikidata item

30 July 2022

based on heuristic

Fatcat ID

release_d6sg2qj2hrgdnpcojq3pjvlh2a

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d6sg2qj2hrgdnpcojq3pjvlh2a

mapped directly with Wikidata item

30 July 2022

based on heuristic

https://api.fatcat.wiki/v0/release/d6sg2qj2hrgdnpcojq3pjvlh2a

1 reference