J Y Garbern

Summary

Affiliation: Wayne State University
Country: USA

Publications

  1. ncbi request reprint Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system
    James Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 E Canfield, Elliman Building, Room 3217, Detroit, MI 48201, USA
    J Neurol Sci 228:201-3. 2005
  2. pmc A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
    James Y Garbern
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain 133:1391-402. 2010
  3. ncbi request reprint Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
    James Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Brain 125:551-61. 2002
  4. ncbi request reprint Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis
    J Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 E Canfield Room 3217, Detroit, MI 48201, USA
    Cell Mol Life Sci 64:50-65. 2007
  5. ncbi request reprint A prospective, open-label treatment trial to compare the effect of IFN beta-1a (Avonex), IFNbeta-1b (Betaseron), and glatiramer acetate (Copaxone) on the relapse rate in relapsing-remitting multiple sclerosis
    O A Khan
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA
    Eur J Neurol 8:141-8. 2001
  6. ncbi request reprint Peripheral neuropathy caused by proteolipid protein gene mutations
    J Y Garbern
    Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Ann N Y Acad Sci 883:351-65. 1999
  7. ncbi request reprint Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy
    O A Khan
    Multiple Sclerosis Center, Department of Neurology, Wayne State University School of Medicine, Detroit, USA
    Mult Scler 7:185-8. 2001
  8. doi request reprint Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1
    Anders A F Sima
    Department of Pathology, School of Medicine, Wayne State University, Detroit, MI, USA
    Acta Neuropathol 118:531-9. 2009
  9. ncbi request reprint Hereditary motor and sensory neuropathies: a biological perspective
    Michael E Shy
    Department of Neurology and The Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Lancet Neurol 1:110-8. 2002
  10. ncbi request reprint Phenotypic clustering in MPZ mutations
    Michael E Shy
    Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Brain 127:371-84. 2004

Collaborators

Detail Information

Publications21

  1. ncbi request reprint Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system
    James Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 E Canfield, Elliman Building, Room 3217, Detroit, MI 48201, USA
    J Neurol Sci 228:201-3. 2005
  2. pmc A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
    James Y Garbern
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain 133:1391-402. 2010
    ....
  3. ncbi request reprint Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
    James Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Brain 125:551-61. 2002
    ..Disruption of PLP1-mediated axonal--glial interactions thus probably causes this axonal degeneration. A similar mechanism may be responsible for axonal degeneration and clinical disability that occur in patients with multiple sclerosis...
  4. ncbi request reprint Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis
    J Y Garbern
    Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 E Canfield Room 3217, Detroit, MI 48201, USA
    Cell Mol Life Sci 64:50-65. 2007
    ..Appreciating the wide range of genetic and cellular effects of PLP1 mutations is important for patient and family counseling, understanding disease pathogenesis, and, ultimately, for developing future disease-specific therapies...
  5. ncbi request reprint A prospective, open-label treatment trial to compare the effect of IFN beta-1a (Avonex), IFNbeta-1b (Betaseron), and glatiramer acetate (Copaxone) on the relapse rate in relapsing-remitting multiple sclerosis
    O A Khan
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA
    Eur J Neurol 8:141-8. 2001
    ..Despite some limitations of the study design, the results provide helpful clinical information regarding the relative efficacy of each therapy in mildly affected treatment-naïve RRMS patients...
  6. ncbi request reprint Peripheral neuropathy caused by proteolipid protein gene mutations
    J Y Garbern
    Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Ann N Y Acad Sci 883:351-65. 1999
    ....
  7. ncbi request reprint Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy
    O A Khan
    Multiple Sclerosis Center, Department of Neurology, Wayne State University School of Medicine, Detroit, USA
    Mult Scler 7:185-8. 2001
    ..Therapy with CTX was well tolerated. CTX may be of benefit in MS patients who experience rapid clinical worsening and are resistant to conventional therapy...
  8. doi request reprint Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1
    Anders A F Sima
    Department of Pathology, School of Medicine, Wayne State University, Detroit, MI, USA
    Acta Neuropathol 118:531-9. 2009
    ..While the precise pathogenetic mechanisms are not known, these observations suggest that defective glial functions contribute to neuronal pathology...
  9. ncbi request reprint Hereditary motor and sensory neuropathies: a biological perspective
    Michael E Shy
    Department of Neurology and The Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Lancet Neurol 1:110-8. 2002
    ....
  10. ncbi request reprint Phenotypic clustering in MPZ mutations
    Michael E Shy
    Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Brain 127:371-84. 2004
    ..In contrast, late onset neuropathy is caused by mutations that more subtly alter myelin structure and which probably disrupt Schwann cell-axonal interactions...
  11. doi request reprint Persistent CNS dysfunction in a boy with CMT1X
    Carly Siskind
    Department of Neurology, Wayne State University, Detroit, MI 48201, USA
    J Neurol Sci 279:109-13. 2009
    ..Some GJB1 mutations have been reported to cause transient clinical CNS dysfunction. We report a boy with persistent CNS abnormalities possibly caused by CMT1X...
  12. pmc Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease
    Allon Goldberg
    Department of Health Care Sciences, Program in Physical Therapy, Mobility Research Laboratory, Wayne State University, 259 Mack Ave, Detroit, MI 48201, USA
    J Neurol Sci 298:91-5. 2010
    ..A moderately low percent minimal detectable change suggests that SRT appears sensitive to detecting real change in people with HD. SRT is impaired in people with HD and may be a valid and objective marker of disease progression...
  13. ncbi request reprint Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation
    M P Gorman
    Department of Neurology, Children s Hospital, Boston, MA 02115, USA
    Neurology 68:1305-7. 2007
    ..409C>T), predicting a tryptophan-for-arginine substitution. This case raises questions about the role of inflammation in PLP1-related disorders and, conversely, PLP1 mutations in MS...
  14. ncbi request reprint Proteolipid protein is necessary in peripheral as well as central myelin
    J Y Garbern
    Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Neuron 19:205-18. 1997
    ..This and the clinical and pathologic observations of the PLP null phenotype indicate that PLP/DM20 is necessary for proper myelin function both in the central and peripheral nervous systems...
  15. ncbi request reprint A prospective, open-label treatment trial to compare the effect of IFNbeta-1a (Avonex), IFNbeta-1b (Betaseron), and glatiramer acetate (Copaxone) on the relapse rate in relapsing--remitting multiple sclerosis: results after 18 months of therapy
    O A Khan
    Multiple Sclerosis Center, Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Mult Scler 7:349-53. 2001
    ..106) who did not show a significant reduction. Despite limitations of the study design, the results provide helpful clinical information regarding the relative efficacy of each therapy in mildly affected treatment naive RRMS patients...
  16. ncbi request reprint Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
    Henry L Paulson
    Department of Neurology, University of Iowa, Iowa City, IA, USA
    Ann Neurol 52:429-34. 2002
    ....
  17. ncbi request reprint Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes
    Grace M Hobson
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Nemours Children s Clinic, Wilmington, Delaware, USA
    Hum Mutat 27:69-77. 2006
    ....
  18. pmc Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
    Karen J Woodward
    Clinical and Molecular Genetics, Institute of Child Health, London
    Am J Hum Genet 77:966-87. 2005
    ....
  19. ncbi request reprint Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease
    Nicole I Wolf
    Clinical and Molecular Genetics, Institute of Child Health, London, UK
    Brain 128:743-51. 2005
    ..It highlights the significance of PLP1 dosage in CNS myelinogenesis as well as the importance of accurate determination of PLP1 gene copy number in the diagnosis of PMD and carrier detection...
  20. ncbi request reprint Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
    Ingrid K Svenson
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Neurogenetics 5:157-64. 2004
    ..Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP...
  21. ncbi request reprint Neuronal cell injury precedes brain atrophy in multiple sclerosis
    John A Kamholz
    Neurology 64:176; author reply 176. 2005