Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 16

Results: 20

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3159, doi. 10.1093/hmg/ddq226

By:

Ning, Ke;
Drepper, Carsten;
Valori, Chiara F.;
Ahsan, Mansoor;
Wyles, Matthew;
Higginbottom, Adrian;
Herrmann, Thomas;
Shaw, Pamela;
Azzouz, Mimoun;
Sendtner, Michael

Publication type:

Article

Impairment of PGC-1alpha expression, neuropathology and hepatic steatosis in a transgenic mouse model of Huntington's disease following chronic energy deprivation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3190, doi. 10.1093/hmg/ddq229

By:

Chaturvedi, Rajnish K.;
Calingasan, Noel Y.;
Yang, Lichuan;
Hennessey, Thomas;
Johri, Ashu;
Beal, M. Flint

Publication type:

Article

Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3179, doi. 10.1093/hmg/ddq228

By:

Ogasawara, Emi;
Nakada, Kazuto;
Hayashi, Jun-Ichi

Publication type:

Article

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3114, doi. 10.1093/hmg/ddq214

By:

Forlani, Greta;
Giarda, Elisa;
Ala, Ugo;
Di Cunto, Ferdinando;
Salani, Monica;
Tupler, Rossella;
Kilstrup-Nielsen, Charlotte;
Landsberger, Nicoletta

Publication type:

Article

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3124, doi. 10.1093/hmg/ddq215

By:

Rakovic, Aleksandar;
Grünewald, Anne;
Seibler, Philip;
Ramirez, Alfredo;
Kock, Norman;
Orolicki, Slobodanka;
Lohmann, Katja;
Klein, Christine

Publication type:

Article

Copy number, linkage disequilibrium and disease association in the FCGR locus.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3282, doi. 10.1093/hmg/ddq216

By:

Niederer, Heather A.;
Willcocks, Lisa C.;
Rayner, Tim F.;
Yang, Wanling;
Lau, Yu Lung;
Williams, Thomas N.;
Scott, J. Anthony G.;
Urban, Britta C.;
Peshu, Norbert;
Dunstan, Sarah J.;
Hien, Tran Tinh;
Phu, Nguyen Hoan;
Padyukov, Leonid;
Gunnarsson, Iva;
Svenungsson, Elisabet;
Savage, Caroline O.;
Watts, Richard A.;
Lyons, Paul A.;
Clayton, David G.;
Smith, Kenneth G.C.

Publication type:

Article

The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3150

By:

Lilljebjörn, Henrik;
Soneson, Charlotte;
Andersson, Anna;
Heldrup, Jesper;
Behrendtz, Mikael;
Kawamata, Norihiko;
Ogawa, Seishi;
Koeffler, H. Phillip;
Mitelman, Felix;
Johansson, Bertil;
Fontes, Magnus;
Fioretos, Thoas

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 16, p. NP, doi. 10.1093/hmg/ddq262
Publication type:: Article

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3219, doi. 10.1093/hmg/ddq231

By:

Rothenberg, Cara;
Srinivasan, Deepa;
Mah, Leann;
Kaushik, Susmita;
Peterhoff, Corrine M.;
Ugolino, Janet;
Fang, Shengyun;
Cuervo, Ana Maria;
Nixon, Ralph A.;
Monteiro, Mervyn J.

Publication type:

Article

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3138, doi. 10.1093/hmg/ddq222

By:

Gautheron, Jérémie;
Pescatore, Alessandra;
Fusco, Francesca;
Esposito, Elio;
Yamaoka, Shoji;
Agou, Fabrice;
Ursini, Matilde Valeria;
Courtois, Gilles

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 16, p. NP, doi. 10.1093/hmg/ddq261
Publication type:: Article

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3254, doi. 10.1093/hmg/ddq234

By:

Irobi, Joy;
Almeida-Souza, Leonardo;
Asselbergh, Bob;
De Winter, Vicky;
Goethals, Sofie;
Dierick, Ines;
Krishnan, Jyothsna;
Timmermans, Jean-Pierre;
Robberecht, Wim;
De Jonghe, Peter;
Van Den Bosch, Ludo;
Janssens, Sophie;
Timmerman, Vincent

Publication type:

Article

Genome-wide identification of mouse congenital heart disease loci.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3105, doi. 10.1093/hmg/ddq211

By:

Kamp, Anna;
Peterson, Michael A.;
Svenson, Karen L.;
Bjork, Bryan C.;
Hentges, Kathryn E.;
Rajapaksha, Tharinda W.;
Moran, Jennifer;
Justice, Monica J.;
Seidman, Jon G.;
Seidman, Christine E.;
Moskowitz, Ivan P.;
Beier, David R.

Publication type:

Article

Integrative gene–tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3233, doi. 10.1093/hmg/ddq232

By:

Kudo, Lili C.;
Parfenova, Liubov;
Vi, Nancy;
Lau, Kimbley;
Pomakian, Justine;
Valdmanis, Paul;
Rouleau, Guy A.;
Vinters, Harry V.;
Wiedau-Pazos, Martina;
Karsten, Stanislav L.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 16, p. NP, doi. 10.1093/hmg/ddq260
Publication type:: Article

Drug screening to identify suppressors of GFAP expression.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3169, doi. 10.1093/hmg/ddq227

By:

Cho, Woosung;
Brenner, Michael;
Peters, Noel;
Messing, Albee

Publication type:

Article

Site-directed gene repair of the dystrophin gene mediated by PNA–ssODNs.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3266, doi. 10.1093/hmg/ddq235

By:

Kayali, Refik;
Bury, Frederic;
Ballard, McIver;
Bertoni, Carmen

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 16, p. NP, doi. 10.1093/hmg/ddq263
Publication type:: Article

Neurotoxic effects of TDP-43 overexpression in C. elegans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3206, doi. 10.1093/hmg/ddq230

By:

Ash, Peter E.A.;
Zhang, Yong-Jie;
Roberts, Christine M.;
Saldi, Tassa;
Hutter, Harald;
Buratti, Emanuele;
Petrucelli, Leonard;
Link, Christopher D.

Publication type:

Article

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 16, p. 3295, doi. 10.1093/hmg/ddq221

By:

Corneveaux, Jason J.;
Myers, Amanda J.;
Allen, April N.;
Pruzin, Jeremy J.;
Ramirez, Manuel;
Engel, Anzhelika;
Nalls, Michael A.;
Chen, Kewei;
Lee, Wendy;
Chewning, Kendria;
Villa, Stephen E.;
Meechoovet, Hunsar B.;
Gerber, Jill D.;
Frost, Danielle;
Benson, Hollie L.;
O'Reilly, Sean;
Chibnik, Lori B.;
Shulman, Joshua M.;
Singleton, Andrew B.;
Craig, David W.

Publication type:

Article