Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 1

Results: 13

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 83, doi. 10.1007/s10048-011-0305-6

By:

Lill, Christina;
Schjeide, Brit-Maren;
Akkad, Denis;
Blaschke, Paul;
Winkelmann, Alexander;
Gerdes, Lisa-Ann;
Hoffjan, Sabine;
Luessi, Felix;
Dörner, Thomas;
Li, Shu-Chen;
Steinhagen-Thiessen, Elisabeth;
Lindenberger, Ulman;
Chan, Andrew;
Hartung, Hans-Peter;
Aktas, Orhan;
Lohse, Peter;
Kümpfel, Tania;
Kubisch, Christian;
Epplen, Joerg;
Zettl, Uwe

Publication type:

Article

Comment on the article 'Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri' by van den Munckhof et al.

Published in:

2012

By:

Prescott, Trine;
Smith, Miriam;
Evans, D.

Publication type:

Letter

Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 23, doi. 10.1007/s10048-011-0304-7

By:

Cho, Ginam;
Nasrallah, MacLean;
Lim, Youngshin;
Golden, Jeffrey

Publication type:

Article

Neuroferritinopathy: a new inborn error of iron metabolism.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 93, doi. 10.1007/s10048-011-0310-9

By:

Keogh, Michael;
Jonas, Patricia;
Coulthard, Alan;
Chinnery, Patrick;
Burn, John

Publication type:

Article

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 73, doi. 10.1007/s10048-012-0314-0

By:

Bauer, Peter;
Leshinsky-Silver, Esther;
Blumkin, Lubov;
Schlipf, Nina;
Schröder, Christopher;
Schicks, Julia;
Lev, Dorit;
Riess, Olaf;
Lerman-Sagie, Tally;
Schöls, Ludger

Publication type:

Article

Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 77, doi. 10.1007/s10048-012-0313-1

By:

Nakamura, Tomonori;
Hashiguchi, Akihiro;
Suzuki, Shinsuke;
Uozumi, Kimiharu;
Tokunaga, Shoko;
Takashima, Hiroshi

Publication type:

Article

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 1, doi. 10.1007/s10048-011-0300-y

By:

Munckhof, Pepijn;
Christiaans, Imke;
Kenter, Susan;
Baas, Frank;
Hulsebos, Theo

Publication type:

Article

Restriction of trophic factors and nutrients induces PARKIN expression.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 9, doi. 10.1007/s10048-011-0303-8

By:

Klinkenberg, M.;
Gispert, S.;
Dominguez-Bautista, J.;
Braun, I.;
Auburger, G.;
Jendrach, M.

Publication type:

Article

Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 97, doi. 10.1007/s10048-011-0312-7

By:

Maher, B.;
Kerr, M.;
Cox, H.;
MacMillan, J.;
Brimage, P.;
Esposito, T.;
Gianfrancesco, F.;
Haupt, L.;
Nyholt, D.;
Lea, R.;
Griffiths, L.

Publication type:

Article

New brain-specific beta-synuclein isoforms show expression ratio changes in Lewy body diseases.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 61, doi. 10.1007/s10048-011-0311-8

By:

Beyer, Katrin;
Munoz-Marmol, Ana;
Sanz, Carolina;
Marginet-Flinch, Ruth;
Ferrer, Isidro;
Ariza, Aurelio

Publication type:

Article

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 31, doi. 10.1007/s10048-011-0306-5

By:

Rosenfeld, Jill;
Amrom, Dina;
Andermann, Eva;
Andermann, Frederick;
Veilleux, Martin;
Curry, Cynthia;
Fisher, Jamie;
Deputy, Stephen;
Aylsworth, Arthur;
Powell, Cynthia;
Manickam, Kandamurugu;
Heese, Bryce;
Maisenbacher, Melissa;
Stevens, Cathy;
Ellison, Jay;
Upton, Sheila;
Moeschler, John;
Torres-Martinez, Wilfredo;
Stevens, Abby;
Marion, Robert

Publication type:

Article

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 49, doi. 10.1007/s10048-011-0307-4

By:

Marx, Mariola;
Diestel, Simone;
Bozon, Muriel;
Keglowich, Laura;
Drouot, Nathalie;
Bouché, Elisabeth;
Frebourg, Thierry;
Minz, Marie;
Saugier-Veber, Pascale;
Castellani, Valérie;
Schäfer, Michael

Publication type:

Article

Genome-scale methylation analysis of Parkinson's disease patients' brains reveals DNA hypomethylation and increased mRNA expression of cytochrome P450 2E1.

Published in:

Neurogenetics, 2012, v. 13, n. 1, p. 87, doi. 10.1007/s10048-011-0308-3

By:

Kaut, Oliver;
Schmitt, Ina;
Wüllner, Ullrich

Publication type:

Article