Ausgabe 1/2006
Inhalt (9 Artikel)
Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease
L. B. Moran, D. C. Duke, M. Deprez, D. T. Dexter, R. K. B. Pearce, M. B. Graeber
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
Hsin F. Chien, Christan F. Rohé, Maria D. L. Costa, Guido J. Breedveld, Ben A. Oostra, Egberto R. Barbosa, Vincenzo Bonifati
Death of neuronal clusters contributes to variance of age at onset in Huntington’s disease
Branka Čajavec, Hanspeter Herzel, Samuel Bernard
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease
Silke Metzger, Peter Bauer, Juergen Tomiuk, Franco Laccone, Stefano Didonato, Cinzia Gellera, Paola Soliveri, Herwig W. Lange, Helga Weirich-Schwaiger, Gregor K. Wenning, Bela Melegh, Victoria Havasi, Lazlo Balikó, Stefan Wieczorek, Larissa Arning, Jacek Zaremba, Anna Sulek, Dorota Hoffman-Zacharska, A. Nazli Basak, Nagehan Ersoy, Jana Zidovska, Vera Kebrdlova, Massimo Pandolfo, Pascale Ribaï, Ludovit Kadasi, Marta Kvasnicova, Bernhard H. F. Weber, Friedmar Kreuz, Matthias Dose, Manfred Stuhrmann, Olaf Riess
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
Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier-Barichard, Raphael Schiffmann, Enrico Bertini, Diana Rodriguez, John A. L. Armour, Odile Boespflug-Tanguy, Catherine Vaurs-Barrière
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
K. Poirier, D. Lacombe, B. Gilbert-Dussardier, M. Raynaud, V. Desportes, A. P. M. de Brouwer, C. Moraine, J. P. Fryns, H. H. Ropers, C. Beldjord, J. Chelly, T. Bienvenu
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
Marcia A. Blair, Shaochun Ma, Peter Hedera
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient
Simona Lucioli, Klaus Hoffmeier, Rosalba Carrozzo, Alessandra Tessa, Bernd Ludwig, Filippo M. Santorelli
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
Marco Venturin, Silvia Moncini, Valentina Villa, Silvia Russo, Maria Teresa Bonati, Lidia Larizza, Paola Riva