Neural deficits contribute to respiratory insufficiency in Pompe disease (Q37224150)

19 August 2017

Neural deficits contribute to respiratory insufficiency in Pompe disease (English)

1 reference

19 August 2017

Lara R DeRuisseau

1

1 reference

19 August 2017

David D Fuller

2

1 reference

19 August 2017

Kai Qiu

3

1 reference

19 August 2017

Keith C DeRuisseau

4

1 reference

19 August 2017

William H Donnelly

5

1 reference

19 August 2017

Cathryn Mah

6

1 reference

19 August 2017

Paul J Reier

7

1 reference

19 August 2017

Barry J Byrne

8

1 reference

19 August 2017

language of work or name

English

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publication date

27 May 2009

1 reference

Proceedings of the National Academy of Sciences of the United States of America

19 August 2017

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19 August 2017

106

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19 August 2017

9419-9424

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19 August 2017

23

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Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Respiratory neuroplasticity and cervical spinal cord injury: translational perspectives

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

The natural course of non-classic Pompe's disease; a review of 225 published cases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Glycogen disease of skeletal muscle; report of two cases and review of literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Episodic but not continuous hypoxia elicits long-term facilitation of phrenic motor output in rats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

On the barometric method for measurements of ventilation, and its use in small animals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Studies of lysosomal alpha-glucosidase. I. Purification and properties of the rat liver enzyme

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Phrenic afferents and ventilatory control

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Episodic hypoxia induces long-term facilitation of neural drive to tongue protrudor and retractor muscles.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Energy transfer from astrocytes to axons: the role of CNS glycogen

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Enzyme replacement therapy in the mouse model of Pompe disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

FUNCTIONAL SIGNIFICANCE OF CELL SIZE IN SPINAL MOTONEURONS

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Serotonin 1A receptor agonists reverse respiratory abnormalities in spinal cord-injured rats.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Nervous system in Pompe's disease. Ultrastructure and biochemistry

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Responses of inspiratory neurons of the dorsal respiratory group to stimulation of expiratory muscle and vagal afferents.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695054

Whole-body plethysmography, does it measure tidal volume of small animals?

3 September 2018

1 reference

12 December 2020

Basic fibroblast growth factor increases long-term survival of spinal motor neurons and improves respiratory function after experimental spinal cord injury

1 reference

12 December 2020

1 reference

12 December 2020

Determination of glycogen in small tissue samples

1 reference

12 December 2020

Relationship between respiratory nerve and muscle activity and muscle force output

1 reference

12 December 2020

Reflex control of diaphragm activation by thoracic afferents

1 reference

12 December 2020

Differential control of ventilation among inbred strains of mice

1 reference

12 December 2020

Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice

1 reference

12 December 2020

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease]

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0902534106

1 reference

19 August 2017

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1 reference

19 August 2017

1 reference