Research Topics
| J Y GarbernSummaryAffiliation: Wayne State University Country: USA Publications
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Detail Information
Publications
Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous systemJames 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
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau depositionJames Y Garbern
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 133:1391-402. 2010....- Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammationJames 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... - Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesisJ 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... - 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 sclerosisO 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... - Peripheral neuropathy caused by proteolipid protein gene mutationsJ Y Garbern
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
Ann N Y Acad Sci 883:351-65. 1999.... - Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapyO 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... 
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1Anders 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...- Hereditary motor and sensory neuropathies: a biological perspectiveMichael 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.... - Phenotypic clustering in MPZ mutationsMichael 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... - Persistent CNS dysfunction in a boy with CMT1XCarly 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... - Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington diseaseAllon 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... - Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutationM 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... - Proteolipid protein is necessary in peripheral as well as central myelinJ 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... - 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 therapyO 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... - Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson
Department of Neurology, University of Iowa, Iowa City, IA, USA
Ann Neurol 52:429-34. 2002.... - Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytesGrace M Hobson
Nemours Biomedical Research, Alfred I duPont Hospital for Children, Nemours Children s Clinic, Wilmington, Delaware, USA
Hum Mutat 27:69-77. 2006.... - Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombinationKaren J Woodward
Clinical and Molecular Genetics, Institute of Child Health, London
Am J Hum Genet 77:966-87. 2005.... - Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher diseaseNicole 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... - Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutationsIngrid 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... - Neuronal cell injury precedes brain atrophy in multiple sclerosisJohn A Kamholz
Neurology 64:176; author reply 176. 2005