Works matching IS 13646745 AND DT 2007 AND VI 8 AND IP 4

Results: 11

Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 263, doi. 10.1007/s10048-007-0100-6

By:

Rosen, Ami;
Steenland, N.;
Hanfelt, John;
Factor, Stewart;
Lah, James;
Levey, Allan

Publication type:

Article

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 301, doi. 10.1007/s10048-007-0095-z

By:

Bo, Roberto;
Fonzo, Alessio;
Ghezzi, Serena;
Locatelli, Federica;
Stevanin, Giovanni;
Costa, Antonella;
Corti, Stefania;
Bresolin, Nereo;
Comi, Giacomo

Publication type:

Article

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 279, doi. 10.1007/s10048-007-0096-y

By:

Hehr, Ute;
Uyanik, Goekhan;
Gross, Claudia;
Walter, Maggie;
Bohring, Axel;
Cohen, Monika;
Oehl-Jaschkowitz, Barbara;
Bird, Lynne;
Shamdeen, Ghiat;
Bogdahn, Ulrich;
Schuierer, Gerhard;
Topaloglu, Haluk;
Aigner, Ludwig;
Lochmüller, Hanns;
Winkler, Jürgen

Publication type:

Article

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 237, doi. 10.1007/s10048-007-0102-4

By:

Mackenzie, Ian;
Rademakers, Rosa

Publication type:

Article

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 307, doi. 10.1007/s10048-007-0097-x

By:

Elleuch, Nizar;
Bouslam, Naima;
Hanein, Sylvain;
Lossos, Alexander;
Hamri, Abdelmadjid;
Klebe, Stephan;
Meiner, Vardiella;
Birouk, Nezha;
Lerer, Israela;
Grid, Djamel;
Bacq, Delphine;
Tazir, Meriem;
Zelenika, Diana;
Argov, Zohar;
Durr, Alexandra;
Yahyaoui, Mohamed;
Benomar, Ali;
Brice, Alexis;
Stevanin, Giovanni

Publication type:

Article

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 257, doi. 10.1007/s10048-007-0094-0

By:

Szigeti, Kinga;
Wiszniewski, Wojciech;
Saifi, Gulam;
Sherman, Diane;
Sule, Norbert;
Adesina, Adekunle;
Mancias, Pedro;
Papasozomenos, Sozos;
Miller, Geoffrey;
Keppen, Laura;
Daentl, Donna;
Brophy, Peter;
Lupski, James

Publication type:

Article

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 289, doi. 10.1007/s10048-007-0101-5

By:

Gellera, Cinzia;
Castellotti, Barbara;
Mariotti, Caterina;
Mineri, Rossana;
Seveso, Viviana;
DiDonato, Stefano;
Taroni, Franco

Publication type:

Article

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.

Published in:

2007

By:

Beetz, Christian;
Nygren, Anders;
Deufel, Thomas;
Reid, Evan

Publication type:

Letter

Acknowledgement to Referees 2006/2007.

Published in:: Neurogenetics, 2007, v. 8, n. 4, p. 319, doi. 10.1007/s10048-007-0105-1
Publication type:: Article

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 271, doi. 10.1007/s10048-007-0093-1

By:

Gómez-Curet, Ilsa;
Robinson, Karyn;
Funanage, Vicky;
Crawford, Thomas;
Scavina, Mena;
Wang, Wenlan

Publication type:

Article

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 249, doi. 10.1007/s10048-007-0098-9

By:

Voss, Katrin;
Stahl, Sonja;
Schleider, Elisa;
Ullrich, Sybille;
Nickel, Joachim;
Mueller, Thomas;
Felbor, Ute

Publication type:

Article