Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 19

Results: 16

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2123, doi. 10.1093/hmg/10.19.2123

By:

Luiro, Kaisu;
Kopra, Outi;
Lehtovirta, Maarit;
Jalanko, Anu

Publication type:

Article

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2143, doi. 10.1093/hmg/10.19.2143

By:

Sergeant, Nicolas;
Sablonnière, Bernard;
Schraen-Maschke, Suzanna;
Ghestem, Antoine;
Maurage, Claude-Alain;
Wattez, Annick;
Vermersch, Patrick;
Delacourte, André

Publication type:

Article

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2049, doi. 10.1093/hmg/10.19.2049

By:

Kleinjan, Dirk A.;
Seawright, Anne;
Schedl, Andreas;
Quinlan, Roy A;
Danes, Sarah;
Heyningen, Veronica van

Publication type:

Article

A distant upstream promoter of the HNF-4 α gene connects the transcription factors involved in maturity-onset diabetes of the young.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2089, doi. 10.1093/hmg/10.19.2089

By:

Thomas, Heike;
Jaschkowitz, Karin;
Bulman, Mike;
Frayling, Timothy M.;
Mitchell, Simon M.S.;
Roosen, Simone;
Lingott-Frieg, Anja;
Tack, Cees J.;
Ellard, Sian;
Ryffel, Gerhart U.;
Hattersley, Andrew T.

Publication type:

Article

Detecting differentially expressed genes in multiple tag sampling experiments: comparative evaluation of statistical tests.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2133, doi. 10.1093/hmg/10.19.2133

By:

Romualdi, C.;
Bortoluzzi, S.;
Danieli, G.A.

Publication type:

Article

Rabies virus glycoprotein pseudotyping of lentiviral vectors enables retrograde axonal transport and access to the nervous system after peripheral delivery.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2109, doi. 10.1093/hmg/10.19.2109

By:

Mazarakis, Nicholas D.;
Azzouz, Mimoun;
Rohll, Jonathan B.;
Ellard, Fiona M.;
Wilkes, Fraser J.;
Olsen, Anna L.;
Carter, Emma E.;
Barber, Robert D.;
Baban, Dilair F.;
Kingsman, Susan M.;
Kingsman, Alan J.;
O’Malley, Karen;
Mitrophanous, Kyriacos A.

Publication type:

Article

A recurrent deletion in the ubiquitously expressed NEMO (IKK- γ ) gene accounts for the vast majority of incontinentia pigmenti mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2171, doi. 10.1093/hmg/10.19.2171

By:

Aradhya, Swaroop;
Woffendin, Hayley;
Jakins, Tracy;
Bardaro, Tiziana;
Esposito, Teresa;
Smahi, Asmae;
Shaw, Christine;
Levy, Moise;
Munnich, Arnold;
D’Urso, Michele;
Lewis, Richard A.;
Kenwrick, Sue;
Nelson, David L.

Publication type:

Article

Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2061, doi. 10.1093/hmg/10.19.2061

By:

Chantrel-Groussard, Karine;
Geromel, Vanna;
Puccio, Hélène;
Koenig, Michel;
Munnich, Arnold;
Rötig, Agnès;
Rustin, Pierre

Publication type:

Article

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2099, doi. 10.1093/hmg/10.19.2099

By:

Tan, Guolin;
Chen, Li-Sheng;
Lonnerdal, Bo;
Gellera, Cinzia;
Taroni, Franco A.;
Cortopassi, Gino A.

Publication type:

Article

Conditional tissue-specific expression of the acid α -glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2039, doi. 10.1093/hmg/10.19.2039

By:

Raben, N.;
Lu, N.;
Nagaraju, K.;
Rivera, Y.;
Lee, A.;
Yan, B.;
Byrne, B.;
Meikle, P.J.;
Umapathysivam, K.;
Hopwood, J.J.;
Plotz, P.H.

Publication type:

Article

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2069, doi. 10.1093/hmg/10.19.2069

By:

Cox, Keith B.;
Hamm, Doug A.;
Millington, David S.;
Matern, Dietrich;
Vockley, Jerry;
Rinaldo, Piero;
Pinkert, Carl A.;
Rhead, William J.;
Lindsey, J. Russell;
Wood, Philip A.

Publication type:

Article

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2165, doi. 10.1093/hmg/10.19.2165

By:

Mankodi, Ami;
Urbinati, Carl R.;
Yuan, Qiu-Ping;
Moxley, Richard T;
Sansone, Valeria;
Krym, Matt;
Henderson, Donald;
Schalling, Martin;
Swanson, Maurice S.;
Thornton, Charles A.

Publication type:

Article

Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2013, doi. 10.1093/hmg/10.19.2013

By:

Oeda, Tomoko;
Shimohama, Shun;
Kitagawa, Naoyuki;
Kohno, Ryuichi;
Imura, Tetsuya;
Shibasaki, Hiroshi;
Ishii, Naoaki

Publication type:

Article

Genetic variation in the human urea transporter-2 is associated with variation in blood pressure.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2157, doi. 10.1093/hmg/10.19.2157

By:

Ranade, Koustubh;
Wu, Kwan-Dun;
Hwu, Chii-Min;
Ting, Chih-Tai;
Pei, Dee;
Pesich, Robert;
Hebert, Joan;
Chen, Yii-Der I.;
Pratt, Richard;
Olshen, Richard;
Masaki, Kamal;
Risch, Neil;
Cox, David R.;
Botstein, David

Publication type:

Article

A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2025, doi. 10.1093/hmg/10.19.2025

By:

Cucca, Francesco;
Lampis, Rosannna;
Congia, Mauro;
Angius, Efisio;
Nutland, Sarah;
Bain, Stephen C.;
Barnett, Anthony H.;
Todd, John A.

Publication type:

Article

Defective satellite cells in congenital myotonic dystrophy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2079, doi. 10.1093/hmg/10.19.2079

By:

Furling, D.;
Coiffier, L.;
Mouly, V.;
Barbet, J.P.;
Lacau St Guily, J.;
Taneja, K.;
Junien, C.;
Butler-Browne, G.S.

Publication type:

Article