Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 11

Results: 24

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228

By:

Urwin, Hazel;
Authier, Astrid;
Nielsen, Jorgen E.;
Metcalf, Daniel;
Powell, Caroline;
Froud, Kristina;
Malcolm, Denise S.;
Holm, Ida;
Johannsen, Peter;
Brown, Jeremy;
Fisher, Elizabeth M.C.;
van der Zee, Julie;
Bruyland, Marc;
Van Broeckhoven, Christine;
Collinge, John;
Brandner, Sebastian;
Futter, Clare;
Isaacs, Adrian M.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq171
Publication type:: Article

Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2208, doi. 10.1093/hmg/ddq099

By:

Lattanzi, Annalisa;
Neri, Margherita;
Maderna, Claudio;
di Girolamo, Ilaria;
Martino, Sabata;
Orlacchio, Aldo;
Amendola, Mario;
Naldini, Luigi;
Gritti, Angela

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq168
Publication type:: Article

Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2099, doi. 10.1093/hmg/ddq087

By:

Yamanaka, Tomoyuki;
Tosaki, Asako;
Miyazaki, Haruko;
Kurosawa, Masaru;
Furukawa, Yoshiaki;
Yamada, Mizuki;
Nukina, Nobuyuki

Publication type:

Article

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2191, doi. 10.1093/hmg/ddq098

By:

Trollet, Capucine;
Anvar, Seyed Yahya;
Venema, Andrea;
Hargreaves, Iain P.;
Foster, Keith;
Vignaud, Alban;
Ferry, Arnaud;
Negroni, Elisa;
Hourde, Christophe;
Baraibar, Martin A.;
't Hoen, Peter A.C.;
Davies, Janet E.;
Rubinsztein, David C.;
Heales, Simon J.;
Mouly, Vincent;
van der Maarel, Silvère M.;
Butler-Browne, Gillian;
Raz, Vered;
Dickson, George

Publication type:

Article

Epigenetic maturation in colonic mucosa continues beyond infancy in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2168, doi. 10.1093/hmg/ddq095

By:

Kellermayer, Richard;
Balasa, Alfred;
Zhang, Wenjuan;
Lee, Stefi;
Mirza, Sherin;
Chakravarty, Abrita;
Szigeti, Reka;
Laritsky, Eleonora;
Tatevian, Nina;
Smith, C. Wayne;
Shen, Lanlan;
Waterland, Robert A.

Publication type:

Article

Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2313, doi. 10.1093/hmg/ddq092

By:

Myouzen, Keiko;
Kochi, Yuta;
Shimane, Kenichi;
Fujio, Keishi;
Okamura, Tomohisa;
Okada, Yukinori;
Suzuki, Akari;
Atsumi, Tatsuya;
Ito, Satoshi;
Takada, Kazuki;
Mimori, Akio;
Ikegawa, Shiro;
Yamada, Ryo;
Nakamura, Yusuke;
Yamamoto, Kazuhiko

Publication type:

Article

Variation in the uric acid transporter gene (SLC2A9) and memory performance.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2321, doi. 10.1093/hmg/ddq097

By:

Houlihan, Lorna M.;
Wyatt, Niki D.;
Harris, Sarah E.;
Hayward, Caroline;
Gow, Alan J.;
Marioni, Riccardo E.;
Strachan, Mark W.J.;
Price, Jackie F.;
Starr, John M.;
Wright, Alan F.;
Deary, Ian J.

Publication type:

Article

The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2251, doi. 10.1093/hmg/ddq104

By:

Yates, Laura L.;
Schnatwinkel, Carsten;
Murdoch, Jennifer N.;
Bogani, Debora;
Formstone, Caroline J.;
Townsend, Stuart;
Greenfield, Andy;
Niswander, Lee A.;
Dean, Charlotte H.

Publication type:

Article

Synphilin-1 attenuates neuronal degeneration in the A53T α-synuclein transgenic mouse model.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2087, doi. 10.1093/hmg/ddq086

By:

Smith, Wanli W.;
Liu, Zhaohui;
Liang, Yideng;
Masuda, Naoki;
Swing, Debbie A.;
Jenkins, Nancy A.;
Copeland, Neal G.;
Troncoso, Juan C.;
Pletnikov, Mikhail;
Dawson, Ted M.;
Martin, Lee J.;
Moran, Timothy H.;
Lee, Michael K.;
Borchelt, David R.;
Ross, Christopher A.

Publication type:

Article

OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2113, doi. 10.1093/hmg/ddq088

By:

Ban, Tadato;
Heymann, Jürgen A.W.;
Song, Zhiyin;
Hinshaw, Jenny E.;
Chan, David C.

Publication type:

Article

Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2144, doi. 10.1093/hmg/ddq093

By:

Rose, Claudia;
Menzies, Fiona M.;
Renna, Maurizio;
Acevedo-Arozena, Abraham;
Corrochano, Silvia;
Sadiq, Oana;
Brown, Steve D.;
Rubinsztein, David C.

Publication type:

Article

Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2284, doi. 10.1093/hmg/ddq106

By:

Wong, Margaret;
Martin, Lee J.

Publication type:

Article

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2134

By:

Gandhi, Kaushal S.;
McKay, Fiona C.;
Cox, Mathew;
Riveros, Carlos;
Armstrong, Nicola;
Heard, Robert N.;
Vucic, Steve;
Williams, David W.;
Stankovich, Jim;
Brown, Matthew;
Danoy, Patrick;
Stewart, Graeme J.;
Broadley, Simon;
Moscato, Pablo;
Lechner-Scott, Jeannette;
Scott, Rodney J.;
Booth, David R.

Publication type:

Article

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2239, doi. 10.1093/hmg/ddq103

By:

Ali, Bassam R.;
Xu, Huifang;
Akawi, Nadia A.;
John, Anne;
Karuvantevida, Noushad S.;
Langer, Ruth;
Al-Gazali, Lihadh;
Leitinger, Birgit

Publication type:

Article

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2123, doi. 10.1093/hmg/ddq089

By:

Stumpf, Jeffrey D.;
Bailey, Christopher M.;
Spell, Diana;
Stillwagon, Matthew;
Anderson, Karen S.;
Copeland, William C.

Publication type:

Article

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2303, doi. 10.1093/hmg/ddq091

By:

Okada, Yukinori;
Kamatani, Yoichiro;
Takahashi, Atsushi;
Matsuda, Koichi;
Hosono, Naoya;
Ohmiya, Hiroko;
Daigo, Yataro;
Yamamoto, Kazuhiko;
Kubo, Michiaki;
Nakamura, Yusuke;
Kamatani, Naoyuki

Publication type:

Article

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2154, doi. 10.1093/hmg/ddq094

By:

Mende, Ylva;
Jakubik, Miriam;
Riessland, Markus;
Schoenen, Frank;
Roßbach, Kristina;
Kleinridders, André;
Köhler, Christoph;
Buch, Thorsten;
Wirth, Brunhilde

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq170
Publication type:: Article

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2331

By:

Bronson, Paola G.;
Caillier, Stacy;
Ramsay, Patricia P.;
McCauley, Jacob L.;
Zuvich, Rebecca L.;
De Jager, Philip L.;
Rioux, John D.;
Ivinson, Adrian J.;
Compston, Alastair;
Hafler, David A.;
Sawcer, Stephen J.;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.;
Hauser, Stephen L.;
Oksenberg, Jorge R.;
Barcellos, Lisa F.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq169
Publication type:: Article

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2177, doi. 10.1093/hmg/ddq096

By:

Alvarez-Saavedra, Matías;
Carrasco, Loreto;
Sura-Trueba, Sylvia;
Demarchi Aiello, Vera;
Walz, Katherina;
Neto, José Xavier;
Young, Juan I.

Publication type:

Article

Functional muscle analysis of the Tcap knockout mouse.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2268, doi. 10.1093/hmg/ddq105

By:

Markert, C.D.;
Meaney, M.P.;
Voelker, K.A.;
Grange, R.W.;
Dalley, H.W.;
Cann, J.K.;
Ahmed, M.;
Bishwokarma, B.;
Walker, S.J.;
Yu, S.X.;
Brown, M.;
Lawlor, M.W.;
Beggs, A.H.;
Childers, M.K.

Publication type:

Article