ReviewBiochimica et biophysica acta2009
Hereditary inclusion body myopathy: a decade of progress.
Review in Biochimica et biophysica acta, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 90 citations in OpenAlex.
- Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.Journal of neuromuscular diseases · 2016Trial
- Preclinical assessment of GNEFuture science OA · 2026Article
- Article
- GNE myopathy with premature ovarian failure: Case report and review of the literature.Molecular genetics and metabolism reports · 2025Article
- Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.Molecules (Basel, Switzerland) · 2024Article
- APP in the Neuromuscular Junction for the Development of Sarcopenia and Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Article
- GNE myopathy: History, etiology, and treatment trials.Frontiers in neurology · 2022Review
- Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.Molecular neurobiology · 2021Article
- AbnormalJIMD reports · 2021Article
- Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.Muscle & nerve · 2019Article
- Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure.Journal of neuroinflammation · 2018Article
- Distal myopathy with rimmed vacuoles: Spectrum ofExperimental and therapeutic medicine · 2018Article
- Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.Neuromuscular disorders : NMD · 2018Article
- GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.Frontiers in neurology · 2018Article
- Pathological findings in sporadic inclusion body myositis and GNE myopathy.International journal of clinical and experimental pathology · 2018Article
- Exploration of the Sialic Acid World.Advances in carbohydrate chemistry and biochemistry · 2018Review
- Fighting the Cause of Alzheimer's and GNE Myopathy.Frontiers in neuroscience · 2018Review
- Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.PloS one · 2017Article
- Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles.Chinese medical journal · 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
2 authors at 1 institution in 2 countries.
Funding
Abstract
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, quadriceps sparing type commonly referred to as HIBM but also termed h-IBM or Inclusion Body Myopathy 2 (IBM2). The clinical manifestations begin with muscle weakness progressing over the next 10-20 years uniquely sparing the quadriceps until the most advanced stage of the disease. Histopathology of an HIBM muscle biopsy shows rimmed vacuoles on Gomori's trichrome stain, small fibers in groups and tubulofilaments without evidence of inflammation. In affected individuals distinct mutations have been identified in the GNE gene, which encodes the bifunctional enzyme uridine diphospho-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase/N-acetyl-mannosamine (ManNAc) kinase (GNE/MNK). GNE/MNK catalyzes the first two committed steps in the biosynthesis of acetylneuraminic acid (Neu5Ac), an abundant and functionally important sugar. The generation of HIBM animal models has led to novel insights into both the disease and the role of GNE/MNK in pathophysiology. Recent advances in therapeutic approaches for HIBM, including administration of N-acetyl-mannosamine (ManNAc), a precursor of Neu5Ac will be discussed.
Indexed as
Identifiers
What OpenQuestion holds
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.