Spinal muscular atrophy with respiratory distress type 1 (SMARD1). (Q34748653)

4 August 2017

Spinal muscular atrophy with respiratory distress type 1 (SMARD1). (English)

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4 August 2017

spinal muscular atrophy

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1

Angela M Kaindl

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4 August 2017

Ulf-Peter Guenther

2

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4 August 2017

Sabine Rudnik-Schöneborn

3

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4 August 2017

Raymonda Varon

4

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4 August 2017

Klaus Zerres

5

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4 August 2017

Markus Schuelke

6

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4 August 2017

Christoph Hübner

7

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4 August 2017

Katja von Au

8

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4 August 2017

1 February 2008

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Journal of Child Neurology

4 August 2017

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4 August 2017

23

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4 August 2017

2

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4 August 2017

199-204

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Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

4 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

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%2F0883073807310989

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073807310989

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Association of the mammalian helicase MAH with the pre-mRNA splicing complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807310989

21 January 2018

Identifiers

DOI

10.1177/0883073807310989

1 reference

4 August 2017

1 reference