ArticlePhysiological genomics2016
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Article in Physiological genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07664930 (Electrophysiological Study of the Phrenic Nerve and Diaphragm in Pompe Disease), which is not on this map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Electrophysiological Study of the Phrenic Nerve and Diaphragm in Pompe Disease: Retrospective and Prospective Cohort Analysis
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Review
- A respiratory signature of disease progression in the Pompe rat.Journal of neurophysiology · 2026Article
- Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Pathophysiology and Management of Fatigue in Neuromuscular Diseases.International journal of molecular sciences · 2023Review
- To detect potential pathways and target genes in infantile Pompe patients using computational analysis.BioImpacts : BI · 2022Article
- The rapidly evolving view of lysosomal storage diseases.EMBO molecular medicine · 2021Review
- Article
- Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice.Scientific reports · 2020Article
- Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.EBioMedicine · 2020Article
- Molecular and histologic outcomes following spinal cord injury in spiny mice, Acomys cahirinus.The Journal of comparative neurology · 2020Article
- The Respiratory Phenotype of Pompe Disease Mouse Models.International journal of molecular sciences · 2020Review
- Advancements in AAV-mediated Gene Therapy for Pompe Disease.Journal of neuromuscular diseases · 2020Review
- Article
- An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.Annals of translational medicine · 2019Review
- Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.Annals of translational medicine · 2019Review
- Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.Molecular therapy. Methods & clinical development · 2019Article
- Pharmacological modulation of hypoxia-induced respiratory neuroplasticity.Respiratory physiology & neurobiology · 2018Review
- Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease.Acta neuropathologica communications · 2017Observational
- Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.Physiological genomics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Pompe disease, caused by deficiency of acid alpha-glucosidase (GAA), leads to widespread glycogen accumulation and profound neuromuscular impairments. There has been controversy, however, regarding the role of central nervous system pathology in Pompe motor dysfunction. We hypothesized that absence of GAA protein causes progressive activation of neuropathological signaling, including pathways associated with cell death. To test this hypothesis, genomic data (Affymetrix Mouse Gene Array 2.0ST) from the midcervical spinal cord in 6 and 16 mo old Pompe (Gaa
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.