Works matching IS 13646745 AND DT 2004 AND VI 5 AND IP 1

Results: 14

Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma.

Published in:

2004

By:

Mizoguchi, Masahiro;
Nutt, Catherine L.;
Louis, David N.

Publication type:

Letter

Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 61, doi. 10.1007/s10048-003-0160-1

By:

Altland, Klaus;
Winter, Pia;
Saraiva, Maria Joao M.;
Suhr, Ole

Publication type:

Article

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.

Published in:

2004

By:

Rademakers, R.;
van den Broeck, M.;
Sleegers, K.;
van Duijn, C.;
van Broeckhoven, C.;
Cruts, M.

Publication type:

Letter

Glu528del in NEFLis a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.

Published in:

2004

By:

Yamamoto, Masahiko;
Yoshihara, Tsuyoshi;
Hattori, Naoki;
Sobue, Gen

Publication type:

Letter

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 69, doi. 10.1007/s10048-003-0161-0

By:

Kaunisto, M. A.;
Harno, H.;
Kallela, M.;
Somer, H.;
Sallinen, R.;
Hämäläinen, E.;
Miettinen, P. J.;
Vesa, J.;
Orpana, A.;
Palotie, A.;
Färkkilä, M.;
Wessman, M.

Publication type:

Article

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 49, doi. 10.1007/s10048-003-0167-7

By:

Muglia, M.;
Criscuolo, C.;
Magariello, A.;
de Michele, G.;
Scarano, V.;
D'Adamo, P.;
Ambrosio, G.;
Gabriele, A. L.;
Patitucci, A.;
Mazzei, R.;
Conforti, F. L.;
Sprovieri, T.;
Morgante, L.;
Epifanio, A.;
La Spina, P.;
Valentino, P.;
Gasparini, P.;
Filla, A.;
Quattrone, A.

Publication type:

Article

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 55, doi. 10.1007/s10048-003-0168-6

By:

Jakubiczka, Sibylle;
Vielhaber, Stefan;
Kress, Wolfram;
Küpferling, Peter;
Reuner, Ulrike;
Kunath, Bernhard;
Wieacker, Peter

Publication type:

Article

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 45, doi. 10.1007/s10048-003-0163-y

By:

Pericak-Vance, Margaret A.;
Rimmler, Jackie B.;
Haines, Jonathan L.;
Garcia, Melissa E.;
Oksenberg, Jorge R.;
Barcellos, Lisa F.;
Lincoln, Robin;
Hauser, Stephen L.;
Cournu-Rebeix, Isabelle;
Azoulay-Cayla, Ariele;
Lyon-Caen, Olivier;
Fontaine, Bertrand;
Duhamel, Emmanuelle;
Coppin, Helene;
Brassat, David;
Roth, Marie-Paule;
Clanet, Michel;
Alizadeh, Mehdi;
Yaouanq, Jacqueline;
Quelvennec, Erwann

Publication type:

Article

Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 41, doi. 10.1007/s10048-003-0158-8

By:

Gu, Wenli;
Sander, Thomas;
Becker, Tim;
Steinlein, Ortrud K.

Publication type:

Article

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 35, doi. 10.1007/s10048-003-0166-8

By:

Karpati, Mazal;
Gazit, Ephraim;
Goldman, Boleslaw;
Frisch, Amos;
Colombo, Roberto;
Peleg, Leah

Publication type:

Article

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 27, doi. 10.1007/s10048-003-0165-9

By:

Louhichi, Nacim;
Triki, Chahnez;
Quijano-Roy, Susana;
Richard, Pascale;
Makri, Samira;
Méziou, Mériem;
Estournet, Brigitte;
Mrad, Slah;
Romero, Norma B.;
Ayadi, Hammadi;
Guicheney, Pascale;
Fakhfakh, Faiza

Publication type:

Article

Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 19, doi. 10.1007/s10048-003-0171-y

By:

Sander, Petra;
Hamann, Henning;
Pfeiffer, Ina;
Wemheuer, Wilhelm;
Brenig, Bertram;
Groschup, Martin H.;
Ziegler, Ute;
Distl, Ottmar;
Leeb, Tosso

Publication type:

Article

Genetic and environmental factors in the pathogenesis of Huntington's disease.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 9, doi. 10.1007/s10048-003-0169-5

By:

van Dellen, Anton;
Hannan, Anthony J.

Publication type:

Article

Friedreich ataxia--update on pathogenesis and possible therapies.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 1, doi. 10.1007/s10048-003-0170-z

By:

Voncken, Max;
Ioannou, Panos;
Delatycki, Martin B.

Publication type:

Article