Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 4

Results: 20

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 684, doi. 10.1093/hmg/ddp535

By:

Douillard-Guilloux, Gaelle;
Raben, Nina;
Takikita, Shoichi;
Ferry, Arnaud;
Vignaud, Alban;
Guillet-Deniau, Isabelle;
Favier, Maryline;
Thurberg, Beth L.;
Roach, Peter J.;
Caillaud, Catherine;
Richard, Emmanuel

Publication type:

Article

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 671, doi. 10.1093/hmg/ddp534

By:

Kabashi, Edor;
Lin, Li;
Tradewell, Miranda L.;
Dion, Patrick A.;
Bercier, Valérie;
Bourgouin, Patrick;
Rochefort, Daniel;
Bel Hadj, Samar;
Durham, Heather D.;
Velde, Christine Vande;
Rouleau, Guy A.;
Drapeau, Pierre

Publication type:

Article

Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 707, doi. 10.1093/hmg/ddp521

By:

Karp, David R.;
Marthandan, Nishanth;
Marsh, Steven G.E.;
Ahn, Chul;
Arnett, Frank C.;
DeLuca, David S.;
Diehl, Alexander D.;
Dunivin, Raymond;
Eilbeck, Karen;
Feolo, Michael;
Guidry, Paula A.;
Helmberg, Wolfgang;
Lewis, Suzanna;
Mayes, Maureen D.;
Mungall, Chris;
Natale, Darren A.;
Peters, Bjoern;
Petersdorf, Effie;
Reveille, John D.;
Smith, Barry

Publication type:

Article

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 735, doi. 10.1093/hmg/ddp540

By:

Tan, Mei Hong;
Smith, Alexander J.;
Pawlyk, Basil;
Xu, Xiaoyun;
Liu, Xiaoqing;
Bainbridge, James B.;
Basche, Mark;
McIntosh, Jenny;
Tran, Hoai Viet;
Nathwani, Amit;
Li, Tiansen;
Ali, Robin R.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 4, p. NP, doi. 10.1093/hmg/ddp577
Publication type:: Article

Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 634, doi. 10.1093/hmg/ddp531

By:

Sun, Ying;
Ran, Huimin;
Zamzow, Matt;
Kitatani, Kazuyuki;
Skelton, Matthew R.;
Williams, Michael T.;
Vorhees, Charles V.;
Witte, David P.;
Hannun, Yusuf A.;
Grabowski, Gregory A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 4, p. NP, doi. 10.1093/hmg/ddp573
Publication type:: Article

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 697, doi. 10.1093/hmg/ddp536

By:

Velho, Sérgia;
Oliveira, Carla;
Paredes, Joana;
Sousa, Sónia;
Leite, Marina;
Matos, Paulo;
Milanezi, Fernanda;
Ribeiro, Ana Sofia;
Mendes, Nuno;
Licastro, Danilo;
Karhu, Auli;
Oliveira, Maria José;
Ligtenberg, Marjolijn;
Hamelin, Richard;
Carneiro, Fátima;
Lindblom, Annika;
Peltomaki, Paivi;
Castedo, Sérgio;
Schwartz, Simó;
Jordan, Peter

Publication type:

Article

The PCLO gene and depressive disorders: replication in a population-based study.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 731, doi. 10.1093/hmg/ddp529

By:

Hek, Karin;
Mulder, Cornelis L.;
Luijendijk, Hendrika J.;
van Duijn, Cornelia M.;
Hofman, Albert;
Uitterlinden, André G.;
Tiemeier, Henning

Publication type:

Article

An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 720, doi. 10.1093/hmg/ddp530

By:

Fairfax, Benjamin P.;
Vannberg, Fredrik O.;
Radhakrishnan, Jayachandran;
Hakonarson, Hakon;
Keating, Brendan J.;
Hill, Adrian V.S.;
Knight, Julian C.

Publication type:

Article

Zebrafish models for human FKRP muscular dystrophies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 623, doi. 10.1093/hmg/ddp528

By:

Kawahara, Genri;
Guyon, Jeffrey R.;
Nakamura, Yukio;
Kunkel, Louis M.

Publication type:

Article

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 657, doi. 10.1093/hmg/ddp533

By:

Shu, Xinhua;
Zeng, Zhiqiang;
Gautier, Philippe;
Lennon, Alan;
Gakovic, Milica;
Patton, E. Elizabeth;
Wright, Alan F.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 4, p. NP, doi. 10.1093/hmg/ddp579
Publication type:: Article

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 648, doi. 10.1093/hmg/ddp532

By:

Ye, Maoqing;
Coldren, Chris;
Liang, Xingqun;
Mattina, Teresa;
Goldmuntz, Elizabeth;
Benson, D. Woodrow;
Ivy, Dunbar;
Perryman, M.B.;
Garrett-Sinha, Lee Ann;
Grossfeld, Paul

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 4, p. NP, doi. 10.1093/hmg/ddp575
Publication type:: Article

Expression analysis of novel striatal-enriched genes in Huntington disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 609, doi. 10.1093/hmg/ddp527

By:

Mazarei, Gelareh;
Neal, Scott J.;
Becanovic, Kristina;
Luthi-Carter, Ruth;
Simpson, Elizabeth M.;
Leavitt, Blair R.

Publication type:

Article

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 597, doi. 10.1093/hmg/ddp526

By:

Wu, Sulin;
Mar-Heyming, Rebecca;
Dugum, Eric Z.;
Kolaitis, Nicholas A.;
Qi, Hongxiu;
Pajukanta, Päivi;
Castellani, Lawrence W.;
Lusis, Aldons J.;
Drake, Thomas A.

Publication type:

Article

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 563, doi. 10.1093/hmg/ddp523

By:

Blanz, Judith;
Groth, Johann;
Zachos, Christina;
Wehling, Christina;
Saftig, Paul;
Schwake, Michael

Publication type:

Article

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 584, doi. 10.1093/hmg/ddp525

By:

Clavero, Sonia;
Bishop, David F.;
Haskins, Mark E.;
Giger, Urs;
Kauppinen, Raili;
Desnick, Robert J.

Publication type:

Article

Huntingtin facilitates polycomb repressive complex 2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 573, doi. 10.1093/hmg/ddp524

By:

Seong, Ihn Sik;
Woda, Juliana M.;
Song, Ji-Joon;
Lloret, Alejandro;
Abeyrathne, Priyanka D.;
Woo, Caroline J.;
Gregory, Gillian;
Lee, Jong-Min;
Wheeler, Vanessa C.;
Walz, Thomas;
Kingston, Robert E.;
Gusella, James F.;
Conlon, Ronald A.;
MacDonald, Marcy E.

Publication type:

Article