D Selcen

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. pmc Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 70:875-85. 2002
  2. ncbi request reprint Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 54:804-10. 2003
  3. pmc Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA
    Neuromuscul Disord 21:161-71. 2011
  4. pmc GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity
    Duygu Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 81:370-8. 2013
  5. pmc Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 77:1951-9. 2011
  6. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Handb Clin Neurol 101:143-54. 2011
  7. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Neurol 23:477-81. 2010
  8. ncbi request reprint The Z-disk diseases
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN, USA
    Adv Exp Med Biol 642:116-30. 2008
  9. pmc Mutation in BAG3 causes severe dominant childhood muscular dystrophy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, NY, USA
    Ann Neurol 65:83-9. 2009
  10. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Research Laboratory, Mayo Clinic, College of Medicine Rochester, Minnesota, USA
    Curr Opin Neurol 21:585-9. 2008

Research Grants

  1. Investigation of Myofibillar Myopathies
    Duygu Selcen; Fiscal Year: 2007

Detail Information

Publications27

  1. pmc Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 70:875-85. 2002
    ..Expression studies in HEK cells indicate that none of the mutations hinders rapsyn self-association but that all three diminish coclustering of AChR with rapsyn...
  2. ncbi request reprint Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 54:804-10. 2003
    ....
  3. pmc Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA
    Neuromuscul Disord 21:161-71. 2011
    ..However, in the majority of the myofibrillar myopathy patients the disease gene awaits discovery...
  4. pmc GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity
    Duygu Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 81:370-8. 2013
    ..To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations...
  5. pmc Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 77:1951-9. 2011
    ..Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM...
  6. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Handb Clin Neurol 101:143-54. 2011
    ..To date, all MFM mutations have appeared in Z-disk-associated proteins: namely, desmin, αB-crystallin, myotilin, ZASP, filamin C, and Bag3. However, in the majority of patients with MFM, the disease gene awaits discovery...
  7. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Neurol 23:477-81. 2010
    ..The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies (MFMs)...
  8. ncbi request reprint The Z-disk diseases
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN, USA
    Adv Exp Med Biol 642:116-30. 2008
    ..Future work aims at understanding the pathophysiology of Z-disk related disorders and identification of novel genetic defects in patients with morphological features of MFM...
  9. pmc Mutation in BAG3 causes severe dominant childhood muscular dystrophy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, NY, USA
    Ann Neurol 65:83-9. 2009
    ..Bag3, another Z-disk-associated protein, has antiapoptotic properties, and its targeted deletion in mice causes fulminant myopathy with early lethality. We therefore searched for mutations in BAG3 in 53 unrelated MFM patients...
  10. doi request reprint Myofibrillar myopathies
    Duygu Selcen
    Department of Neurology, Division of Child Neurology and Neuromuscular Research Laboratory, Mayo Clinic, College of Medicine Rochester, Minnesota, USA
    Curr Opin Neurol 21:585-9. 2008
    ..The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies...
  11. ncbi request reprint Otocerebral anomalies associated with topical tretinoin use
    D Selcen
    Children s Hospital of Michigan, Department of Pediatrics, Division of Neurology, Wayne State University, Detroit, MI, USA
    Brain Dev 22:218-20. 2000
    ....
  12. ncbi request reprint Mutations in ZASP define a novel form of muscular dystrophy in humans
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 57:269-76. 2005
    ....
  13. ncbi request reprint Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
    Duygu Selcen
    Department of Neurology, Neuromuscular Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Brain 127:439-51. 2004
    ..Further advances in defining the molecular causes of MFM will probably come from linkage studies of informative kinships or from systematic search for mutations in proteins participating in the intricate network supporting the Z-disk...
  14. ncbi request reprint Mutations in myotilin cause myofibrillar myopathy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 62:1363-71. 2004
    ..The authors' objective was to determine whether mutations in myotilin, a key Z-disk component and the disease protein in limb-girdle muscular dystrophy (LGMD) 1A, are another cause of MFM...
  15. ncbi request reprint Are MuSK antibodies the primary cause of myasthenic symptoms?
    Duygu Selcen
    Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 62:1945-50. 2004
    ..To investigate the morphologic, electrophysiologic, and molecular correlates of muscle-specific tyrosine kinase-seropositive [MuSK(+)] myasthenia gravis (MG)...
  16. pmc Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
    M Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 73:228-35. 2009
    ..Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes...
  17. pmc Myasthenic syndrome caused by plectinopathy
    D Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 76:327-36. 2011
    ..Defects in plectin cause epidermolysis bullosa simplex (EBS), muscular dystrophy (MD), and sometimes pyloric atresia. Association of EBS with a myasthenic syndrome (MyS) was documented in a single patient in 1999...
  18. pmc Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 64:71-87. 2008
    ..Detailed analysis of phenotypic and molecular genetic aspects of Dok-7 myasthenia in 16 patients...
  19. ncbi request reprint The earliest pathologic alterations in dysferlinopathy
    D Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 56:1472-81. 2001
    ..MAC activation can participate in but is not an initial or primary event causing muscle fiber injury...
  20. ncbi request reprint Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?
    D Selcen
    Department of Neurology, Children s Hospital of Michigan, Detroit, Michigan, USA
    Muscle Nerve 24:138-43. 2001
    ..Muscle spindle excess with hypertrophic cardiomyopathy, organomegaly, and, possibly, congenital neuroblastoma suggests a syndromic association and may represent an unusual form of congenital myopathy...
  21. ncbi request reprint Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 51:224-34. 2002
    ....
  22. ncbi request reprint Zaspopathy in a large classic late-onset distal myopathy family
    R Griggs
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Brain 130:1477-84. 2007
    ..Haplotype studies in this family and in five other unrelated families with European ancestry carrying the identical A165V mutation share common markers at the locus suggesting the existence of a founder mutation...
  23. pmc What have we learned from the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Mol Neurosci 40:143-53. 2010
    ..Mutations in EP-specific proteins also prompted expression studies that proved pathogenicity, highlighted important functional domains of the abnormal proteins, and pointed to rational therapy...
  24. pmc Further observations in congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Ann N Y Acad Sci 1132:104-13. 2008
    ..4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS...
  25. ncbi request reprint Sporadic late onset nemaline myopathy
    Nizar Chahin
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 65:1158-64. 2005
    ..To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM)...
  26. ncbi request reprint A 46-year-old woman with severe weakness following acute respiratory distress syndrome
    Andrew J Waclawik
    Department of Neurology, University of Wisconsin, Madison, WI, USA
    Neurology 68:1529-35. 2007
  27. ncbi request reprint Titinopathies: what happens when a big gene mutates in a big family?
    Duygu Selcen
    Neurology 64:596-7. 2005

Research Grants2

  1. Investigation of Myofibillar Myopathies
    Duygu Selcen; Fiscal Year: 2007
    ..abstract_text> ..