Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Marion E. Hodes"'
Autor:
Marion E. Hodes, E. P. Bosch, Wendy H. Raskind, Anders A. F. Sima, Stephen R. Dlouhy, Jean-Michel Vallat, Michael E. Shy, Franca Cambi, John Kamholz, Richard A. Lewis, George H. Kraft, Thomas D. Bird, James Y. Garbern, Wendy B. Macklin
Publikováno v:
Annals of the New York Academy of Sciences. 883(1)
Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene. Most investigators have found that peripheral nerve function a
Autor:
Karen Sperle, Mark T. Ross, Karen Woodward, Sue Malcolm, John Kamholz, Maria Cundall, Marion E. Hodes, Donald L. Hobson, Henry H.Q. Heng, Nigel P. Carter, Erik A. Sistermans, D C Burford, Grace M. Hobson, Gareth R. Howell, James Y. Garbern, Susan M. Gribble
Publikováno v:
Woodward, K J, Cundall, M, Sperle, K, Sistermans, E A, Ross, M, Howell, G, Gribble, S M, Burford, D C, Carter, N P, Hobson, D L, Garbern, J Y, Kamholz, J, Heng, H, Hodes, M E, Malcolm, S & Hobson, G M 2005, ' Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination ', American journal of human genetics, vol. 77, no. 6, pp. 966-987 . https://doi.org/10.1086/498048
American Journal of Human Genetics, 77, 6, pp. 966-87
American journal of human genetics, 77(6), 966-987. Cell Press
American Journal of Human Genetics, 77, 966-87
American Journal of Human Genetics, 77, 6, pp. 966-87
American journal of human genetics, 77(6), 966-987. Cell Press
American Journal of Human Genetics, 77, 966-87
Item does not contain fulltext We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first report of 13 junction seque
Autor:
Hitoshi Osaka, Ken Inoue, James R. Lupski, Marion E. Hodes, Akira Yoneyama, Lisa G. Shaffer, Virginia C. Thurston, Joe T.R. Clarke, Thomas D. Bird, Lisa Rosenbarker
Publikováno v:
The American Journal of Human Genetics. 71:838-853
In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these submicroscopic chromosomal rearrangements remain unkn
Autor:
Eric Siemers, Joe C. Christian, Tatiana Foroud, Marion E. Hodes, Sandra Close Kirkwood, P. M. Conneally
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 69:773-779
OBJECTIVES—To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characterise early signs of disease and to identify markers o
Autor:
Antonina Aydanian, Marion E. Hodes, Bruce Barker, Sakkubai Naidu, José L. Garcia Oller, Thomas D. Hurley, Stephen R. Dlouhy, Neil R. Miller, Kirk A. Aleck, Andrew W. Zimmerman
Publikováno v:
American Journal of Medical Genetics. 82:132-139
Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) comprises a spectrum of diseases that range from severe to quite mild. The reasons for the variation in severity are not obvious, but suggested explanations include the extent of dis
Autor:
Marta Szabo, Tatyana Verina, Alfred Heller, Jianjun Wei, Bernardino Ghetti, Marion E. Hodes, Stephen R. Dlouhy, Lisa Won, Neena B. Schwartz
Publikováno v:
Neuroendocrinology. 68:374-385
The weaver (wv) mutant mouse manifests severe locomotor defects, a deficiency in granule cells of the cerebellum, and cellular deficits in the midbrain dopaminergic system. The wv phenotype is associated with a missense mutation in the pore region of
Autor:
Cherie E. Bond, Carl P. Boesel, Xiaoli Si, Stephen R. Dlouhy, George W. Paulson, Margaret Crisp, Marion E. Hodes, Paul W.K. Wong
Publikováno v:
American Journal of Medical Genetics. 71:357-360
We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probabl
Publikováno v:
American Journal of Medical Genetics. 69:121-125
We report a G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, resul
Autor:
Niebler G, Norton Ja, Bill Dj, Tatiana Foroud, Sorbel J, Eric Siemers, Marion E. Hodes, Joe C. Christian, P.M. Conneally
Publikováno v:
Archives of Neurology. 53:487-492
Objective: To determine whether changes in motor function and reaction time are present in presymptomatic individuals carrying the Huntington disease (HD) allele. Design: A case-control, double-blind study comparing asymptomatic at-risk subjects, wit
Publikováno v:
American Journal of Medical Genetics. 55:397-401
We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the propo