S M Tanner

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi request reprint Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
    S M Tanner
    Human Molecular Genetics, Department of Clinical Research, Children s Hospital, University of Berne, Switzerland
    Neuromuscul Disord 9:41-9. 1999
  2. ncbi request reprint Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
    S M Tanner
    Department of Clinical Research, Human Molecular Genetics, Children s Hospital, University of Berne, Switzerland
    Hum Genet 104:249-53. 1999
  3. ncbi request reprint Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
    S M Tanner
    Department of Clinical Research, Human Molecular Genetics, University of Berne, Switzerland
    Hum Mutat 11:62-8. 1998
  4. ncbi request reprint Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
    J Laporte
    IGBMC, CNRS INSERM ULP, Illkirch, France
    Hum Mol Genet 6:1505-11. 1997
  5. ncbi request reprint Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, Illkirch, France
    Eur J Hum Genet 6:325-30. 1998
  6. ncbi request reprint Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations
    P M Grogan
    Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA
    Neurology 64:1638-40. 2005
  7. ncbi request reprint MTM1 mutations in X-linked myotubular myopathy
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
    Hum Mutat 15:393-409. 2000
  8. ncbi request reprint X-inactivation patterns in carriers of X-linked myotubular myopathy
    M Kristiansen
    Department of Medical Genetics, Institute of Medical Genetics, University of Oslo, Oslo, Norway
    Neuromuscul Disord 13:468-71. 2003

Collaborators

  • K H Orstavik
  • M Sadeh
  • W Kress
  • Enrico Bertini
  • M Fardeau
  • J Laporte
  • C Wallgren-Pettersson
  • P M Grogan
  • K H ├śrstavik
  • M Kristiansen
  • S Liechti-Gallati
  • J L Mandel
  • F Blondeau
  • L L Herbelin
  • R J Barohn
  • H Vogel
  • G P S Knudsen
  • A L McVey
  • J S Katz
  • C Guiraud-Chaumeil
  • D S Saperstein
  • H Jungbluth
  • G P Knudsen
  • F Muntoni
  • M McEntagart
  • S Gallati
  • C Sewry
  • A Buj-Bello
  • V Biancalana
  • V Schneider
  • F Herger
  • S Vicaire
  • L J Hu
  • M C Vincent
  • F Samson
  • N Dahl
  • P A Bolhuis

Detail Information

Publications8

  1. ncbi request reprint Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
    S M Tanner
    Human Molecular Genetics, Department of Clinical Research, Children s Hospital, University of Berne, Switzerland
    Neuromuscul Disord 9:41-9. 1999
    ..The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations...
  2. ncbi request reprint Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
    S M Tanner
    Department of Clinical Research, Human Molecular Genetics, Children s Hospital, University of Berne, Switzerland
    Hum Genet 104:249-53. 1999
    ..Linkage analysis excluded a possible involvement of the XIST locus at Xq13...
  3. ncbi request reprint Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
    S M Tanner
    Department of Clinical Research, Human Molecular Genetics, University of Berne, Switzerland
    Hum Mutat 11:62-8. 1998
    ..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
  4. ncbi request reprint Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
    J Laporte
    IGBMC, CNRS INSERM ULP, Illkirch, France
    Hum Mol Genet 6:1505-11. 1997
    ..Additional mutations are missenses clustered in two regions of the protein. Most of these affect amino acids conserved in the homologous yeast and Caenorhabditis elegans proteins, thus indicating the presence of other functional domains...
  5. ncbi request reprint Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, Illkirch, France
    Eur J Hum Genet 6:325-30. 1998
    ..We characterised a new polymorphic marker in the immediate vicinity of the gene, which might prove useful for linkage analysis. Sequencing of the TATA-less predicted promoter provides the basis for transcriptional regulatory studies...
  6. ncbi request reprint Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations
    P M Grogan
    Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA
    Neurology 64:1638-40. 2005
    ..Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families...
  7. ncbi request reprint MTM1 mutations in X-linked myotubular myopathy
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
    Hum Mutat 15:393-409. 2000
    ..While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years)...
  8. ncbi request reprint X-inactivation patterns in carriers of X-linked myotubular myopathy
    M Kristiansen
    Department of Medical Genetics, Institute of Medical Genetics, University of Oslo, Oslo, Norway
    Neuromuscul Disord 13:468-71. 2003
    ..Thus, there was a tendency for females with a more severe phenotype to have a skewed pattern of X inactivation, while females with an intermediate phenotype had a random pattern of X-inactivation...