Search Results - "HODES, M. E"

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination by Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M.E., Malcolm, Sue, Hobson, Grace M.

“…We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene ( PLP1) in patients with…”
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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females by Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T.R., Yoneyama, Akira, Rosenbarker, Lisa, Bird, Thomas D., Hodes, M.E., Shaffer, Lisa G., Lupski, James R.

“…In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is…”
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Subtle changes among presymptomatic carriers of the Huntington's disease gene by Kirkwood, S C, Siemers, E, Hodes, M E, Conneally, P M, Christian, J C, Foroud, T

“…OBJECTIVES To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing…”
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Cognitive scores in carriers of Huntington's disease gene compared to noncarriers by Foroud, T, Siemers, E, Kleindorfer, D, Bill, D J, Hodes, M E, Norton, J A, Conneally, P M, Christian, J C

“…Huntington's disease (HD) is a progressive neurodegenerative disorder recently shown to be due to an excess number of CAG trinucleotide repeats in the 5'…”
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Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles by Hsiao, Karen, Dlouhy, Stephen R, Farlow, Martin R, Cass, Carin, Da Costa, Maria, Michael Conneally, P, Hodes, M. E, Ghetti, Bernardino, Prusiner, Stanley B

“…Two families with Gerstmann-Sträussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent…”
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Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene by Dlouhy, Stephen R, Hsiao, Karen, Farlow, Martin R, Foroud, Tatiana, Conneally, P. Michael, Johnson, Patricia, Prusiner, Stanley B, Hodes, M. E, Ghetti, Bernardino

“…The Indiana kindred variant of Gerstmann-Sträussler-Scheinker disease has amyloid plaques that contain prion protein (PrP), but is atypical because…”
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Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales by Close Kirkwood, Sandra, Siemers, Eric, Viken, Richard J, Hodes, M.E, Conneally, P.Michael, Christian, Joe C, Foroud, Tatiana

“…Individuals at-risk for Huntington disease (HD), both HD gene carriers and nongene carriers, were recruited to determine whether psychological changes are…”
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Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome by Hodes, M.E., Woodward, Karen, Spinner, Nancy B., Emanuel, Beverly S., Enrico-Simon, Agnes, Kamholz, John, Stambolian, Dwight, Zackai, Elaine H., Pratt, Victoria M., Thomas, I.T., Crandall, Kerry, Dlouhy, Stephen R., Malcolm, Sue

“…The proteolipid protein gene ( PLP) is normally present at chromosome Xq22. Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher…”
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Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations by GARBERN, JAMES Y., CAMBI, FRANCA, LEWIS, RICHARD, SHY, MICHAEL, SIMA, ANDERS, KRAFT, GEORGE, VALLAT, J. M., BOSCH, E. P., HODES, M. E., DLOUHY, STEPHEN, RASKIND, WENDY, BIRD, THOMAS, MACKLIN, WENDY, KAMHOLZ, JOHN

“…Pelizaeus‐Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the…”
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Diverse cell death pathways result from a single missense mutation in weaver mouse by Migheli, A, Piva, R, Wei, J, Attanasio, A, Casolino, S, Hodes, ME, Dlouhy, SR, Bayer, SA, Ghetti, B

“…Neuronal death affects selectively granule cell precursors of the cerebellum and the dopaminergic neurons of midbrain in the weaver mutant mouse. The weaver…”
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Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease by Gao, Q, Thurston, VC, Vance, GH, Dlouhy, SR, Hodes, ME

“…PMD is an X‐linked recessive disorder due to a proteolipid protein (PLP) deficiency. Duplications of PLP gene were shown to be the principle cause of the…”
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Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease by NANCE, M. A, BOYADJIEV, S, PRATT, V. M, TAYLOR, S, HODES, M. E, DLOUHY, S. R

“…A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother,…”
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Coupled reverse transcription-polymerase chain reaction (RT-PCR) as a sensitive and rapid method for isozyme genotyping by Mocharla, H, Mocharla, R, Hodes, M E

“…We have developed a highly sensitive and rapid coupled reverse transcription-polymerase chain reaction (RT-PCR) technique for detection of…”
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In Situ Hybridization Analysis of Girk2 Expression in the Developing Central Nervous System in Normal and Weaver Mice by Wei, Jianjun, Dlouhy, Stephen R, Bayer, Shirley, Piva, Roberto, Verina, Tatyana, Wang, Yi, Feng, Yue, Dupree, Brenda, Hodes, M E, Ghetti, Bernardino

“…A mutation in the gene Girk2 that encodes an inwardly rectifying potassium channel is the genetic defect causing the behavioral and pathologic abnormalities of…”
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Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant by Trofatter, James A., Dlouhy, Stephen R., DeMyer, William, Conneally, P. Michael, Hodes, M. E.

“…Pelizaeus-Merzbacher disease (PMD) is a human X chromosome-linked dysmyelination disorder of the central nervous system for which the genetic defect has not…”
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Direct amplification of the CAG repeat of huntingtin without amplification of CCG by BOND, C. E, HODES, M. E

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Characterization of murine Girk2 transcript isoforms : Structure and differential expression by JIANJUN WEI, HODES, M. E, PIVA, R, YUE FENG, YI WANG, GHETTI, B, DLOUHY, S. R

“…A mutation in the G-protein-linked inwardly rectifying K+ channel 2 gene (Girk2) is the cause of the weaver mouse phenotype. We determined that the originally…”
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Possible localization of a major gene for cleft lip and palate to 4q by Beiraghi, S, Foroud, T, Diouhy, S, Bixler, D, Conneally, P M, Delozier-Blanchet, D, Hodes, M E

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Properties and Tissue Distribution of Mouse Monomeric Carbonyl Reductase by ISHIKURA, Shuhei, YAMAMOTO, Yutaka, MATSUURA, Kazuya, WEI, Jianjun, HODES, M.E., HARA, Akira

“…We previously cloned a cDNA for mouse cerebellum carbonyl reductase which shows more than 81% homology to the cDNAs for monomeric carbonyl reductases of the…”
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The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2 by Tong, Yanhe, Wei, Jianjun, Zhang, Shengwen, Strong, Judith A., Dlouhy, Stephen R., Hodes, M.E., Ghetti, Bernardino, Yu, Lei

“…The weaver mutation in mice has recently been identified as a single base-pair mutation in the Girk2 gene, which encodes a G-protein-activated inwardly…”
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