Works matching IS 13646745 AND DT 2006 AND VI 7 AND IP 2

Results: 8

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 93, doi. 10.1007/s10048-006-0034-4

By:

Mannan, Ashraf U.;
Boehm, Johann;
Sauter, Simone M.;
Rauber, Anne;
Byrne, Paula C.;
Neesen, Juergen;
Engel, Wolfgang

Publication type:

Article

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 131, doi. 10.1007/s10048-006-0028-2

By:

Namekawa, Michito;
Nelson, Isabelle;
Ribai, Pascale;
Dürr, Alexandra;
Denis, Elodie;
Stevanin, Giovanni;
Ruberg, Merle;
Brice, Alexis

Publication type:

Article

Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 67, doi. 10.1007/s10048-006-0032-6

By:

Roth, Richard B.;
Hevezi, Peter;
Lee, Jerry;
Willhite, Dorian;
Lechner, Sandra M.;
Foster, Alan C.;
Zlotnik, Albert

Publication type:

Article

Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb muscles.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 81, doi. 10.1007/s10048-006-0031-7

By:

Baker, Patrick E.;
Kearney, Jessica A.;
Gong, Bendi;
Merriam, Anita P.;
Kuhn, Donald E.;
Porter, John D.;
Rafael-Fortney, Jill A.

Publication type:

Article

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.

Published in:

2006

By:

Züchner, Stephan;
Kail, Melanie E.;
Nance, Martha A.;
Gaskell, Perry C.;
Svenson, Ingrid K.;
Marchuk, Douglas A.;
Pericak-Vance, Margaret A.;
Ashley-Koch, Allison E.

Publication type:

Letter

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y

By:

Cannelli, Natalia;
Cassandrini, Denise;
Bertini, Enrico;
Striano, Pasquale;
Fusco, Lucia;
Gaggero, Roberto;
Specchio, Nicola;
Biancheri, Roberta;
Vigevano, Federico;
Bruno, Claudio;
Simonati, Alessandro;
Zara, Federico;
Santorelli, Filippo M.

Publication type:

Article

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 105, doi. 10.1007/s10048-006-0042-4

By:

Gul, Asma;
Hassan, Muhammad;
Mahmood, Saqib;
Wenje Chen;
Rahmani, Safa;
Naseer, Muhammad Imran;
Dellefave, Lisa;
Muhammad, Noor;
Rafiq, Muhammad Arshad;
Ansar, Muhammad;
Chishti, Muhammad Salman;
Ali, Ghazanfar;
Siddique, Teepu;
Ahmad, Wasim

Publication type:

Article

Identification of Alu elements mediating a partial PMP22 deletion.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 119, doi. 10.1007/s10048-006-0030-8

By:

Matejas, Verena;
Huehne, Kathrin;
Thiel, Christian;
Sommer, Claudia;
Jakubiczka, Sibylle;
Rautenstrauss, Bernd

Publication type:

Article