Russell Margolis

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. pmc Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
    Claudia Cagnoli
    Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and Azienda Ospedaliera San Giovanni Battista di Torino, S C Genetica Medica, Torino, Italy
    J Mol Diagn 6:96-100. 2004
  2. pmc Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells
    Tarja A Juopperi
    Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Mol Brain 5:17. 2012
  3. pmc FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
    Ana I Seixas
    UnIGENe, IBMC Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Behav Brain Funct 7:19. 2011
  4. ncbi request reprint Huntington's disease like-2: review and update
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, USA
    Acta Neurol Taiwan 14:1-8. 2005
  5. ncbi request reprint Huntington's Disease-like 2 (HDL2) in North America and Japan
    Russell L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Ann Neurol 56:670-4. 2004
  6. ncbi request reprint Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future
    Russell L Margolis
    Department of Psychiatry, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Expert Rev Mol Diagn 3:715-32. 2003
  7. ncbi request reprint Diagnosis of Huntington disease
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Clin Chem 49:1726-32. 2003
  8. ncbi request reprint A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
    R L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Neurol 50:373-80. 2001
  9. ncbi request reprint A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
    R L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Neurol 50:373-80. 2001
  10. ncbi request reprint The spinocerebellar ataxias: order emerges from chaos
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Curr Neurol Neurosci Rep 2:447-56. 2002

Research Grants

  1. TRINUCLEOTIDE REPEATS AND NEUROLOGIC DISEASE
    Russell Margolis; Fiscal Year: 2004
  2. A Mouse Model of RNA-induced Neurotoxcity
    Russell Margolis; Fiscal Year: 2007

Detail Information

Publications36

  1. pmc Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
    Claudia Cagnoli
    Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and Azienda Ospedaliera San Giovanni Battista di Torino, S C Genetica Medica, Torino, Italy
    J Mol Diagn 6:96-100. 2004
    ....
  2. pmc Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells
    Tarja A Juopperi
    Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Mol Brain 5:17. 2012
    ..The development of experimental systems based on iPSC technology could aid in the identification of molecular lesions and therapeutic treatments...
  3. pmc FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
    Ana I Seixas
    UnIGENe, IBMC Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Behav Brain Funct 7:19. 2011
    ..In conclusion, genetic testing for FXTAS should be made available to patients with adult-onset movement disorders to enable adequate genetic counseling to family members...
  4. ncbi request reprint Huntington's disease like-2: review and update
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, USA
    Acta Neurol Taiwan 14:1-8. 2005
    ..The phenotypic similarities between HD and HDL2 suggest that understanding the pathobiology of HDL2 may shed new light on the pathogenesis of HD and other disorders of striatal neurodegeneration...
  5. ncbi request reprint Huntington's Disease-like 2 (HDL2) in North America and Japan
    Russell L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Ann Neurol 56:670-4. 2004
    ..0098). The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype...
  6. ncbi request reprint Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future
    Russell L Margolis
    Department of Psychiatry, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Expert Rev Mol Diagn 3:715-32. 2003
    ..The clinical, pathological, genetic and pathogenic features of each disorder are considered and the current status and future of diagnosis and therapy are reviewed in light of this classification scheme...
  7. ncbi request reprint Diagnosis of Huntington disease
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Clin Chem 49:1726-32. 2003
    ..Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset...
  8. ncbi request reprint A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
    R L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Neurol 50:373-80. 2001
    ..Cloning the causative CAG expansion mutation for this new disease, which we have termed Huntington's disease-like 2, may yield valuable insight into the pathogenesis of HD and related disorders...
  9. ncbi request reprint A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
    R L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Neurol 50:373-80. 2001
    ..Cloning the causative CAG expansion mutation for this new disease, which we have termed Huntington's disease-like 2, may yield valuable insight into the pathogenesis of HD and related disorders...
  10. ncbi request reprint The spinocerebellar ataxias: order emerges from chaos
    Russell L Margolis
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Curr Neurol Neurosci Rep 2:447-56. 2002
    ..At present, most diagnostic and therapeutic strategies apply equally to all of the SCAs. Therapy specific for individual diseases or types of diseases is a realistic goal in the foreseeable future...
  11. ncbi request reprint Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's disease
    Iracema Leroi
    Program in Cellular and Molecular Medicine, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Psychiatry 159:1306-14. 2002
    ..This study estimated the psychiatric morbidity of patients with degenerative cerebellar diseases...
  12. ncbi request reprint Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individuals
    Jason Brandt
    Baltimore Huntington s Disease Research Center, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, MD, USA
    J Int Neuropsychol Soc 8:918-24. 2002
    ..Conceptual and methodological problems associated with the search for presymptomatic cognitive and behavioral indicators of dementing illness are discussed...
  13. ncbi request reprint Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy
    Dobrila D Rudnicki
    Laboratory of Genetic Neurobiology, Department of Psychiatry, Meyer 2 181, 600 N Wolfe Street, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Expert Rev Mol Med 5:1-24. 2003
    ..The different pathogenic mechanisms in these three groups of diseases have important implications for the development of rational therapeutics...
  14. ncbi request reprint Regional white matter change in pre-symptomatic Huntington's disease: a diffusion tensor imaging study
    Sarah A J Reading
    Division of Psychiatric Neuroimaging, Department of Psychiatry, The Johns Hopkins University, Phipps 313, Baltimore, MD 21287, USA
    Psychiatry Res 140:55-62. 2005
    ..Our results indicate that, before the onset of manifest HD, there are regional decreases in fractional anisotropy, indicating early white matter disorganization...
  15. pmc Neuropsychological deficits in Huntington's disease gene carriers and correlates of early "conversion"
    Jason Brandt
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    J Neuropsychiatry Clin Neurosci 20:466-72. 2008
    ..People with the Huntington's disease mutation who are carefully examined neurologically and found to be asymptomatic have, at most, very minimal problem-solving impairment, and only if they are within a few years of clinical onset...
  16. ncbi request reprint Predictors of neuropathological severity in 100 patients with Huntington's disease
    Adam Rosenblatt
    Department of Psychiatry, Johns Hopkins University School of Medicine, Meyer 2 181, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Ann Neurol 54:488-93. 2003
    ..Motor impairment appears to be a good clinical measure of neuronal cell loss, at least late in the course of HD and therefore may prove useful in observational and treatment studies...
  17. ncbi request reprint Cognitive impairments in cerebellar degeneration: a comparison with Huntington's disease
    Jason Brandt
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7218, USA
    J Neuropsychiatry Clin Neurosci 16:176-84. 2004
    ..These differences may reflect the involvement of the cerebellar dentate nucleus and the striatal nuclei in separate "loops" or closed circuits, linking them with specific areas of cerebral neocortex...
  18. ncbi request reprint Functional brain changes in presymptomatic Huntington's disease
    Sarah A J Reading
    Department of Psychiatry, Johns Hopkins University, Baltimore, MD 21287, USA
    Ann Neurol 55:879-83. 2004
    ..In the setting of normal cognitive performance, presymptomatic HD subjects had significantly and specifically less activation in the left anterior cingulate cortex (BA 24, 32) compared with matched controls...
  19. doi request reprint Neuropsychiatric disorders: The choice of antipsychotics in schizophrenia
    Russell L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Baltimore, MD 21287
    Nat Rev Neurol 5:308-10. 2009
    ..A new meta-analysis concludes that the difference in efficacy between newer and older agents is small, and the current classification scheme for antipsychotics does not survive close scrutiny...
  20. ncbi request reprint Cognitive impairment and psychiatric symptoms in 133 patients with diseases associated with cerebellar degeneration
    Christine M Liszewski
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    J Neuropsychiatry Clin Neurosci 16:109-12. 2004
    ..Psychopathology, including depression, personality change, cognitive impairment, anxiety, and psychosis was noted in 51% of 133 patients...
  21. ncbi request reprint A four-year prospective study of cognitive functioning in Huntington's disease
    Julianna Ward
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    J Int Neuropsychol Soc 12:445-54. 2006
    ..g., QNE and Trail Making Test, Part A) but not in dysfunction on tasks requiring higher-order processing...
  22. doi request reprint A comparison of huntington disease and huntington disease-like 2 neuropathology
    Dobrila D Rudnicki
    Division of Neurobiology, Department of Psychiatry, John Hopkins University School of Medicine, Baltimore, Maryland, USA
    J Neuropathol Exp Neurol 67:366-74. 2008
    ..Overall, the neuropathologic features of HDL2 and HD are very similar but not identical, suggesting that the pathogenetic mechanisms of the 2 diseases may partially overlap...
  23. doi request reprint Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations
    Heather A Bruce
    Departments of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Psychiatr Genet 19:64-71. 2009
    ..We therefore carried out a pilot experiment to explore the potential role of long tandem repeats as risk factors in psychiatric disorders...
  24. pmc Prevalence of anxiety disorders and anxiety subtypes in patients with Parkinson's disease
    Gregory M Pontone
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Mov Disord 24:1333-8. 2009
    ..In addition, certain anxiety subtypes may be clinically useful markers associated with disease impact in PD...
  25. ncbi request reprint Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci
    Dobrila D Rudnicki
    Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Neurol 61:272-82. 2007
    ..The goal of this study, therefore, was to test the plausibility of an RNA gain-of-function component in the pathogenesis of HDL2...
  26. ncbi request reprint Neurobiology of schizophrenia
    Christopher A Ross
    Division of Neurobiology, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Neuron 52:139-53. 2006
    ..Understanding these basic pathologic processes may yield novel targets for the development of more effective treatments...
  27. ncbi request reprint Alpha-synuclein phosphorylation enhances eosinophilic cytoplasmic inclusion formation in SH-SY5Y cells
    Wanli W Smith
    Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Neurosci 25:5544-52. 2005
    ..These results indicate that phosphorylation of alpha-synuclein at S129 may be important for the formation of inclusions in PD and related alpha synucleinopathies...
  28. ncbi request reprint FOXP2: novel exons, splice variants, and CAG repeat length stability
    Heather A Bruce
    Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Hum Genet 111:136-44. 2002
    ..This demonstration of additional FOXP2 exons and splice variants should facilitate understanding of FOXP2 function and the search for additional FOXP2 mutations...
  29. pmc A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, and Bioinformatics Program, School of Public Health, Boston University, Boston, MA, USA
    Am J Hum Genet 73:682-7. 2003
    ..Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD...
  30. ncbi request reprint Phenotypic features of Huntington's disease-like 2
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx Mount Sinai School of Medicine, New York, New York 10029, USA
    Mov Disord 18:1527-30. 2003
    ..It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits...
  31. ncbi request reprint Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation
    Anthony P Nicholas
    Department of Neurology, University of Alabama at Birmingham and the Birmingham Veterans Administration Medical Center, Birmingham, Alabama 35249 7340, USA
    Mov Disord 19:641-8. 2004
    ..These results suggest that specific clinical signs and symptoms may be of value in differentiating individuals affected with SPG4 from family members with nonspecific neurological findings...
  32. ncbi request reprint Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype
    Ingrid Bauer
    Ann Neurol 51:662. 2002
  33. ncbi request reprint Schizophrenia in a patient with spinocerebellar ataxia 2: coincidence of two disorders or a neurodegenerative disease presenting with psychosis?
    Matthew Rottnek
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Am J Psychiatry 165:964-7. 2008
  34. ncbi request reprint FXTAS, SCA10, and SCA17 in American patients with movement disorders
    Ana I Seixas
    Am J Med Genet A 136:87-9. 2005
  35. pmc Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
    ....
  36. ncbi request reprint Huntington's disease like-2 neuropathology
    Penny E Greenstein
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Mov Disord 22:1416-23. 2007
    ..Pathologically, HDL-2 is similar to HD in its effect on the neostriatum but may differ, at least in some cases, in its degree of focal cortical involvement, including the occipital lobe...

Research Grants8

  1. TRINUCLEOTIDE REPEATS AND NEUROLOGIC DISEASE
    Russell Margolis; Fiscal Year: 2004
    ..Overall, the proposed experiments will enable a systematic test for CAG/CTG expansion mutations in a variety of devastating neurodegenerative diseases. ..
  2. A Mouse Model of RNA-induced Neurotoxcity
    Russell Margolis; Fiscal Year: 2007
    ..Finding the points of pathogenic convergence in these diseases may provide novel leads for the development of rational therapeutics. ..