(Q38026012)

27 August 2017

title

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy (English)

1 reference

27 August 2017

Cyril Gitiaux

1

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27 August 2017

Jean Bergounioux

2

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27 August 2017

Maryse Magen

3

1 reference

27 August 2017

Susana Quijano-Roy

4

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27 August 2017

Thierry Blanc

5

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27 August 2017

Jean Paul Bonnefont

6

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27 August 2017

Isabelle Desguerre

7

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27 August 2017

publication date

12 July 2012

1 reference

Journal of Child Neurology

27 August 2017

published in

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27 August 2017

volume

28

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27 August 2017

issue

6

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27 August 2017

page(s)

787-790

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Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

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%2F0883073812450209

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

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%2F0883073812450209

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

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%2F0883073812450209

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%2F0883073812450209

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

Spinal muscular atrophy with respiratory disease (SMARD): an ethical dilemma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450209

21 January 2018

Identifiers

DOI

10.1177/0883073812450209

1 reference

27 August 2017

1 reference