Search Results - "Bone, L. J."

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease by Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. Oronzi, Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.

“…X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The…”
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New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease by BONE, L. J, DAHL, N, LENSCH, M. W, CHANCE, P. F, KELLY, T, LE GUERN, E, MAGI, S, SHAPIRO, H, WANG, S, FISCHBECK, K. H

“…Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains…”
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Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome by MUENKE, M, BONE, L. J, TESSIER-LAVIGNE, M, PATTERSON, D, MITCHELL, H. F, HART, I, WALTON, K, HALL-JOHNSON, K, IPPEL, E. F, DIETZ-BAND, J, KVALØY, K, CHEN-MING FAN

“…We set out to define the holoprosencephaly (HPE) critical region on chromosome 21 and also to determine whether there were human homologues of the Drosophila…”
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Studies in Transgenic Mice Indicate a Loss of Connexin32 Function in X-Linked Charcot-Marie-Tooth Disease by Abel, Annette, Bone, Linda J, Messing, Albee, Scherer, Steven S, Fischbeck, Kenneth H

“…X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited demyelinating neuropathy caused by mutations in the gene encoding the gap junction protein…”
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Connexin32-null mice develop demyelinating peripheral neuropathy by Scherer, Steven S., Xu, Yi-Tian, Nelles, Eric, Fischbeck, Kenneth, Willecke, Klaus, Bone, Linda J.

“…Mutations in the gene encoding the gap junction protein connexin32 (Cx32) cause X‐linked Charcot‐Marie‐Tooth disease (CMTX), a common form of inherited…”
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Functional Gap Junctions in the Schwann Cell Myelin Sheath by Balice-Gordon, Rita J., Bone, Linda J., Scherer, Steven S.

“…The Schwann cell myelin sheath is a multilamellar structure with distinct structural domains in which different proteins are localized. Intracellular dye…”
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Connexin32 and X-linked Charcot-Marie-Tooth disease by Fischbeck, K H, Deschênes, S M, Bone, L J, Scherer, S S

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Connexin32 and X-linked Charcot-Marie-Tooth disease by Bone, L J, Deschênes, S M, Balice-Gordon, R J, Fischbeck, K H, Scherer, S S

“…Mutations in the gap junction gene connexin32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy. More than…”
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The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease by Scherer, S S, Bone, L J, Deschênes, S M, Abel, A, Balice-Gordon, R J, Fischbeck, K H

“…Mutations in the gene encoding the gap junction protein connexin32 (Cx32; beta 1) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX), a common form…”
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Connexin32-null mice develop demyelinating peripheral neuropathy: Gap junctions and glia by SCHERER, S. S, XU, Y.-T, NELLES, E, FISCHBECK, K, WILLECKE, K, BONE, L. J

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Juvenile primiparity; study of 462 cases by FACCHIN DE BONE, J L

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