Works matching IS 13646745 AND DT 2006 AND VI 7 AND IP 1

Results: 9

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 39, doi. 10.1007/s10048-005-0014-0

By:

Poirier, K.;
Lacombe, D.;
Gilbert-Dussardier, B.;
Raynaud, M.;
Desportes, V.;
Brouwer, A.;
Moraine, C.;
Fryns, J.;
Ropers, H.;
Beldjord, C.;
Chelly, J.;
Bienvenu, T.

Publication type:

Article

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 51, doi. 10.1007/s10048-005-0015-z

By:

Lucioli, Simona;
Hoffmeier, Klaus;
Carrozzo, Rosalba;
Tessa, Alessandra;
Ludwig, Bernd;
Santorelli, Filippo

Publication type:

Article

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 13, doi. 10.1007/s10048-005-0017-x

By:

Chien, Hsin;
Rohé, Christan;
Costa, Maria;
Breedveld, Guido;
Oostra, Ben;
Barbosa, Egberto;
Bonifati, Vincenzo

Publication type:

Article

Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 1, doi. 10.1007/s10048-005-0020-2

By:

Moran, L.;
Duke, D.;
Deprez, M.;
Dexter, D.;
Pearce, R.;
Graeber, M.

Publication type:

Article

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 27, doi. 10.1007/s10048-005-0023-z

By:

Metzger, Silke;
Bauer, Peter;
Tomiuk, Juergen;
Laccone, Franco;
Didonato, Stefano;
Gellera, Cinzia;
Soliveri, Paola;
Lange, Herwig;
Weirich-Schwaiger, Helga;
Wenning, Gregor;
Melegh, Bela;
Havasi, Victoria;
Balikó, Lazlo;
Wieczorek, Stefan;
Arning, Larissa;
Zaremba, Jacek;
Sulek, Anna;
Hoffman-Zacharska, Dorota;
Basak, A.;
Ersoy, Nagehan

Publication type:

Article

Death of neuronal clusters contributes to variance of age at onset in Huntington’s disease.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 21, doi. 10.1007/s10048-005-0025-x

By:

Čajavec, Branka;
Herzel, Hanspeter;
Bernard, Samuel

Publication type:

Article

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1

By:

Combes, Patricia;
Bonnet-Dupeyron, Marie-Noelle;
Gauthier-Barichard, Fernande;
Schiffmann, Raphael;
Bertini, Enrico;
Rodriguez, Diana;
Armour, John;
Boespflug-Tanguy, Odile;
Vaurs-Barrière, Catherine

Publication type:

Article

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 59, doi. 10.1007/s10048-005-0026-9

By:

Venturin, Marco;
Moncini, Silvia;
Villa, Valentina;
Russo, Silvia;
Bonati, Maria;
Larizza, Lidia;
Riva, Paola

Publication type:

Article

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 47, doi. 10.1007/s10048-005-0027-8

By:

Blair, Marcia;
Ma, Shaochun;
Hedera, Peter

Publication type:

Article