(Q28289944)

22 June 2017

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice (English)

1 reference

22 June 2017

0 references

spinal muscular atrophy

1 reference

1 reference

1

Christopher R Heier

1 reference

22 June 2017

Rosalba Satta

2

1 reference

22 June 2017

Cathleen Lutz

series ordinal

3

1 reference

22 June 2017

Christine J DiDonato

series ordinal

4

1 reference

22 June 2017

language of work or name

English

0 references

publication date

6 August 2010

1 reference

22 June 2017

Human Molecular Genetics

1 reference

22 June 2017

19

1 reference

22 June 2017

20

1 reference

22 June 2017

3906-3918

1 reference

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

22 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Medical considerations of long-term survival of Werdnig-Hoffmann disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Method for non-invasively recording electrocardiograms in conscious mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Identification and characterization of a spinal muscular atrophy-determining gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Development of electrocardiogram intervals during growth of FVB/N neonate mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Influence of left versus right hemibody onset Parkinson's disease on cardiovascular control

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Vascular perfusion abnormalities in infants with spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Progressive sudomotor dysfunction in amyotrophic lateral sclerosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

The ontogenesis of cholinesterase activity within the heart and cardiac ganglia in man, rat, rabbit and guinea-pig

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Cardiac involvement in the Kugelberg-Welander syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

The neurobiology of childhood spinal muscular atrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Spinal muscular atrophy combined with congenital heart disease: a report of two cases.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

The Development of Cardiac Rate Regulation in Preweanling Rats

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Ontogeny of heart-rate controls in hamster, rat, and guinea pig

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Cardiac and respiratory patterns in normal infants and victims of the sudden infant death syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Myocardial ultrastructural changes in Kugelberg-Welander syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease).

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

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/10.1093%2FHMG%2FDDQ330

Parasympathetic but not sympathetic cardiac dysfunction at early stages of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ330

Developmental patterns of heart rate and heart rate variability during sleep and waking in normal infants and infants at risk for the sudden infant death syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Heart rate variation in relation to age and sleep state in neonatal lambs.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947406

Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation

27 November 2018

1 reference

12 December 2020

[Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases]

1 reference

12 December 2020

An abnormal relationship between blood pressure and pulse rate in amyotrophic lateral sclerosis

1 reference

12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

12 December 2020

Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy

1 reference

12 December 2020

Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS

1 reference

12 December 2020

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ330

1 reference

release_tomxvcmsv5hz3lcnuccnoh5mie

22 June 2017

0 references

OpenCitations bibliographic resource ID

449831

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference