Works matching IS 13646745 AND DT 2005 AND VI 6 AND IP 4

Results: 9

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 195, doi. 10.1007/s10048-005-0011-3

By:

Biancheri, R.;
Rossi, A.;
Verbeek, H.;
Schot, R.;
Corsolini, F.;
Assereto, S.;
Mancini, G.;
Verheijen, F.;
Minetti, C.;
Filocamo, M.

Publication type:

Article

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 185, doi. 10.1007/s10048-005-0012-2

By:

Bassi, Maria;
Balottin, Umberto;
Panzeri, Chris;
Piccinelli, Paolo;
Castaldo, Pasqualina;
Barrese, Vincenzo;
Soldovieri, Maria;
Miceli, Francesco;
Colombo, Maria;
Bresolin, Nereo;
Borgatti, Renato;
Taglialatela, Maurizio

Publication type:

Article

Lrrk2 pathogenic substitutions in Parkinson's disease.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 171, doi. 10.1007/s10048-005-0005-1

By:

Mata, Ignacio;
Kachergus, Jennifer;
Taylor, Julie;
Lincoln, Sarah;
Aasly, Jan;
Lynch, Timothy;
Hulihan, Mary;
Cobb, Stephanie;
Wu, Ruey-Meei;
Lu, Chin-Song;
Lahoz, Carlos;
Wszolek, Zbigniew;
Farrer, Matthew

Publication type:

Article

Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 179, doi. 10.1007/s10048-005-0001-5

By:

Tan, E.;
Shen, H.;
Tan, J.;
Lim, K.;
Fook-Chong, S.;
Hu, W.;
Paterson, M.;
Chandran, V.;
Yew, K.;
Tan, C.;
Yuen, Y.;
Pavanni, R.;
Wong, M.;
Puvan, K.;
Zhao, Y.

Publication type:

Article

Association of sporadic Creutzfeldt–Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 229, doi. 10.1007/s10048-005-0016-y

By:

Jeong, Byung-Hoon;
Lee, Kyung-Hee;
Kim, Nam-Ho;
Jin, Jae-Kwang;
Kim, Jae-Il;
Carp, Richard;
Kim, Yong-Sun

Publication type:

Article

Familial risks for migraine and other headaches among siblings based on hospitalizations in Sweden.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 217, doi. 10.1007/s10048-005-0019-8

By:

Hemminki, Kari;
Li, Xinjun;
Johansson, Sven-Erik;
Sundquist, Kristina;
Sundquist, Jan

Publication type:

Article

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 209, doi. 10.1007/s10048-005-0013-1

By:

Carmo Costa, Maria;
Costa, Cristina;
Silva, Ana Paula;
Evangelista, Pedro;
Santos, Luís;
Ferro, Anabela;
Sequeiros, Jorge;
Maciel, Patrícia

Publication type:

Article

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 201, doi. 10.1007/s10048-005-0018-9

By:

Rump, P.;
Lemmink, H.;
Verschuuren-Bemelmans, C.;
Grootscholten, P.;
Fock, J.;
Hayflick, S.;
Westaway, S.;
Vos, Y.;
Essen, A.

Publication type:

Article

Immunoglobulin KM allotypes are associated with the prevalence of autoantibodies to GD1a ganglioside, but not with susceptibility to the disease, in Japanese patients with Guillain–Barré syndrome.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 225, doi. 10.1007/s10048-005-0022-0

By:

Pandey, Janardan;
Koga, Michiaki;
Yuki, Nobuhiro

Publication type:

Article