Works matching IS 13646745 AND DT 2008 AND VI 9 AND IP 2

Results: 10

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 109, doi. 10.1007/s10048-008-0120-x

By:

Rodríguez-Martínez, Ana;
Alfonso-Sánchez, Miguel;
Peña, José;
Sánchez-Valle, Raquel;
Zerr, Inga;
Capellari, Sabina;
Calero, Miguel;
Zarranz, Juan;
Pancorbo, Marian

Publication type:

Article

Structural genomic variation in ischemic stroke.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 101, doi. 10.1007/s10048-008-0119-3

By:

Matarin, Mar;
Simon-Sanchez, Javier;
Fung, Hon-Chung;
Scholz, Sonja;
Gibbs, J.;
Hernandez, Dena;
Crews, Cynthia;
Britton, Angela;
Wavrant De Vrieze, Fabienne;
Brott, Thomas;
Brown, Robert;
Worrall, Bradford;
Silliman, Scott;
Case, L.;
Hardy, John;
Rich, Stephen;
Meschia, James;
Singleton, Andrew

Publication type:

Article

RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 83, doi. 10.1007/s10048-007-0114-0

By:

Häbig, K.;
Walter, M.;
Poths, S.;
Riess, O.;
Bonin, M.

Publication type:

Article

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 143, doi. 10.1007/s10048-008-0123-7

By:

Frédéric, M.;
Clot, F.;
Cif, L.;
Blanchard, A.;
Dürr, A.;
Vuillaume, I.;
Lesca, G.;
Kreisler, A.;
Davin, C.;
Besnard, T.;
Rousset, F.;
Thorel, D.;
Saquet, C.;
Mechin, D.;
Ozelius, L.;
Agid, Y.;
Barroso, B.;
Chabrol, B.;
Chan, V.;
Clanet, M.

Publication type:

Article

Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.

Published in:

2008

By:

Kurosaki, Tatsuaki;
Matsuura, Tohru;
Ohno, Kinji;
Ueda, Shintaroh

Publication type:

Letter

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 75, doi. 10.1007/s10048-007-0113-1

By:

Kemlink, David;
Plazzi, Giuseppe;
Vetrugno, Roberto;
Provini, Federica;
Polo, Olli;
Stiasny-Kolster, Karin;
Oertel, Wolfgang;
Nevsimalova, Sona;
Sonka, Karel;
Högl, Birgit;
Frauscher, Birgit;
Hadjigeorgiou, Georgios;
Pramstaller, Peter;
Lichtner, Peter;
Meitinger, Thomas;
Müller-Myshok, Bertram;
Winkelmann, Juliane;
Montagna, Pasquale

Publication type:

Article

Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 127, doi. 10.1007/s10048-008-0122-8

By:

Lee, Joseph;
Cheng, Rong;
Rogaeva, Ekaterina;
Meng, Yan;
Stern, Yaakov;
Santana, Vincent;
Lantigua, Rafael;
Medrano, Martin;
Jimenez-Velazquez, Ivonne;
Farrer, Lindsay;
St. George-Hyslop, Peter;
Mayeux, Richard

Publication type:

Article

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 119, doi. 10.1007/s10048-008-0121-9

By:

Tüysüz, Beyhan;
Bayrakli, Fatih;
DiLuna, Michael;
Bilguvar, Kaya;
Bayri, Yasar;
Yalcinkaya, Cengiz;
Bursali, Aysegul;
Ozdamar, Elif;
Korkmaz, Baris;
Mason, Christopher;
Ozturk, Ali;
Lifton, Richard;
State, Matthew;
Gunel, Murat

Publication type:

Article

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 139, doi. 10.1007/s10048-008-0118-4

By:

Madia, Francesca;
Striano, Pasquale;
Bonaventura, Carlo;
Falco, Arturo;
Falco, Fabrizio;
Manfredi, Mario;
Casari, Giorgio;
Striano, Salvatore;
Minetti, Carlo;
Zara, Federico

Publication type:

Article

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 95, doi. 10.1007/s10048-007-0115-z

By:

Orzan, Francesca;
Stroppi, Michela;
Venturin, Marco;
Valero, M.;
Hernández, Concepcion;
Riva, Paola

Publication type:

Article