Research Topics
Genomes and GenesSpecies | Russell MargolisSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Publications
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assayClaudia Cagnoli
Dipartimento di Genetica Biologia e Biochimica, , S.C. Genetica Medica, Torino, Italy
J Mol Diagn 6:96-100. 2004....- FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesAna 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... 
Huntington's disease like-2: review and updateRussell 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...- Huntington's Disease-like 2 (HDL2) in North America and JapanRussell 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... - A disorder similar to Huntington's disease is associated with a novel CAG repeat expansionR 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... - Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the futureRussell 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... - Diagnosis of Huntington diseaseRussell 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... - The spinocerebellar ataxias: order emerges from chaosRussell 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... - A disorder similar to Huntington's disease is associated with a novel CAG repeat expansionR 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... - Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's diseaseIracema 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..These results also support previous findings that the cerebellum may have a role in modulating emotion and cognition... - Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individualsJason 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... 
Neuropsychiatric disorders: The choice of antipsychotics in schizophreniaRussell 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...- 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... - A four-year prospective study of cognitive functioning in Huntington's diseaseJulianna 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... - Regional white matter change in pre-symptomatic Huntington's disease: a diffusion tensor imaging studySarah 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... - Cognitive impairments in cerebellar degeneration: a comparison with Huntington's diseaseJason 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... - Functional brain changes in presymptomatic Huntington's diseaseSarah 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... - Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversyDobrila 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... - Predictors of neuropathological severity in 100 patients with Huntington's diseaseAdam 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... - Cognitive impairment and psychiatric symptoms in 133 patients with diseases associated with cerebellar degenerationChristine 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... - A comparison of huntington disease and huntington disease-like 2 neuropathologyDobrila 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... - Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populationsHeather 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... - Prevalence of anxiety disorders and anxiety subtypes in patients with Parkinson's diseaseGregory 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... - Alpha-synuclein phosphorylation enhances eosinophilic cytoplasmic inclusion formation in SH-SY5Y cellsWanli 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... - FOXP2: novel exons, splice variants, and CAG repeat length stabilityHeather 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... - Huntington's disease--like 2 is associated with CUG repeat-containing RNA fociDobrila 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... - Neurobiology of schizophreniaChristopher 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... - A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS studyJian-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... - 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 - Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutationAnthony 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... 
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS studyJian Liang Li
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 7:71. 2006....- Phenotypic features of Huntington's disease-like 2Ruth 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... - Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotypeIngrid Bauer
Ann Neurol 51:662. 2002 - FXTAS, SCA10, and SCA17 in American patients with movement disordersAna I Seixas
Am J Med Genet A 136:87-9. 2005 - Huntington's disease like-2 neuropathologyPenny 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 Grants
- TRINUCLEOTIDE REPEATS AND NEUROLOGIC DISEASERussell 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. ..
- A Mouse Model of RNA-induced NeurotoxcityRussell Margolis; Fiscal Year: 2007..Finding the points of pathogenic convergence in these diseases may provide novel leads for the development of rational therapeutics. ..