Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 2

Results: 9

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 115, doi. 10.1007/s10048-012-0315-z

By:

Boyden, Steven;
Mahoney, Lane;
Kawahara, Genri;
Myers, Jennifer;
Mitsuhashi, Satomi;
Estrella, Elicia;
Duncan, Anna;
Dey, Friederike;
DeChene, Elizabeth;
Blasko-Goehringer, Jessica;
Bönnemann, Carsten;
Darras, Basil;
Mendell, Jerry;
Lidov, Hart;
Nishino, Ichizo;
Beggs, Alan;
Kunkel, Louis;
Kang, Peter

Publication type:

Article

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 125, doi. 10.1007/s10048-012-0317-x

By:

Skehan, Evelyn;
Abdulrahim, Manal;
Parfrey, Nollaig;
Hand, Collette

Publication type:

Article

Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 181, doi. 10.1007/s10048-012-0316-y

By:

Schmied, Mascha;
Zehetmayer, Sonja;
Reindl, Markus;
Ehling, Rainer;
Bajer-Kornek, Barbara;
Leutmezer, Fritz;
Zebenholzer, Karin;
Hotzy, Christoph;
Lichtner, Peter;
Meitinger, Thomas;
Wichmann, H-Erich;
Illig, Thomas;
Gieger, Christian;
Huber, Klaus;
Khalil, Michael;
Fuchs, Sigrid;
Schmidt, Helena;
Auff, Eduard;
Kristoferitsch, Wolfgang;
Fazekas, Franz

Publication type:

Article

Systems genetic analysis of the effects of iron deficiency in mouse brain.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 147, doi. 10.1007/s10048-012-0321-1

By:

Jellen, Leslie;
Unger, Erica;
Lu, Lu;
Williams, Robert;
Rousseau, Sarah;
Wang, Xusheng;
Earley, Christopher;
Allen, Richard;
Miles, Michael;
Jones, Byron

Publication type:

Article

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 141, doi. 10.1007/s10048-012-0319-8

By:

Smith, Miriam;
Wallace, Andrew;
Bowers, Naomi;
Rustad, Cecilie;
Woods, C.;
Leschziner, Guy;
Ferner, Rosalie;
Evans, D.

Publication type:

Article

Forkhead family transcription factor FoxO and neural differentiation.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 105, doi. 10.1007/s10048-012-0320-2

By:

Wen, Qiang;
Wang, Haitao;
Little, Peter;
Quirion, Remi;
Zheng, Wenhua

Publication type:

Article

JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 133, doi. 10.1007/s10048-012-0318-9

By:

Schneider, Susanne;
Marshall, Kate;
Xiao, Jianfeng;
LeDoux, Mark

Publication type:

Article

Axonal transport deficit in a KIF5A mouse model.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 169, doi. 10.1007/s10048-012-0324-y

By:

Karle, Kathrin;
Möckel, Diana;
Reid, Evan;
Schöls, Ludger

Publication type:

Article

Regulation of estrogen receptor alpha gene expression in the mouse prefrontal cortex during early postnatal development.

Published in:

Neurogenetics, 2012, v. 13, n. 2, p. 159, doi. 10.1007/s10048-012-0323-z

By:

Westberry, Jenne;
Wilson, Melinda

Publication type:

Article