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Connection

Peter Pytel to Mutation

This is a "connection" page, showing publications Peter Pytel has written about Mutation.
Connection Strength

0.934
  1. Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. Muscle Nerve. 2016 Mar; 53(3):473-5.
    View in: PubMed
    Score: 0.252
  2. High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13. Acta Neuropathol. 2022 03; 143(3):403-414.
    View in: PubMed
    Score: 0.095
  3. Pediatric Gliomas Presenting with Gliomatosis-Like Spread, Lack of Contrast Enhancement, EGFR Mutation, and TERT Promoter Variants. J Neuropathol Exp Neurol. 2021 12 29; 80(12):1134-1136.
    View in: PubMed
    Score: 0.094
  4. Identification of Molecular Alterations Challenging Initial Pathologic Classification in Cases of Clinician-Initiated Next-Generation Sequencing Testing. Am J Clin Pathol. 2021 Nov 08; 156(6):1007-1018.
    View in: PubMed
    Score: 0.093
  5. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021 08; 64(2):219-224.
    View in: PubMed
    Score: 0.091
  6. Integrating a Large Next-Generation Sequencing Panel into the Clinical Diagnosis of Gliomas Provides a Comprehensive Platform for Classification from FFPE Tissue or Smear Preparations. J Neuropathol Exp Neurol. 2019 03 01; 78(3):257-267.
    View in: PubMed
    Score: 0.078
  7. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLoS One. 2010 Dec 14; 5(12):e14342.
    View in: PubMed
    Score: 0.044
  8. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr; 48(4):600-8.
    View in: PubMed
    Score: 0.041
  9. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9.
    View in: PubMed
    Score: 0.040
  10. Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy. Cardiovasc Pathol. 2010 Mar-Apr; 19(2):e33-6.
    View in: PubMed
    Score: 0.038
  11. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9.
    View in: PubMed
    Score: 0.034
  12. Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. Acta Neuropathol. 2023 01; 145(1):71-82.
    View in: PubMed
    Score: 0.025
  13. Impaired exercise tolerance and skeletal muscle myopathy in sulfonylurea receptor-2 mutant mice. Am J Physiol Regul Integr Comp Physiol. 2009 Oct; 297(4):R1144-53.
    View in: PubMed
    Score: 0.010
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.