Ausgabe 4/2011
Inhalt (11 Artikel)
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
Peter Elfferich, Marja C. Verleun-Mooijman, J. Anneke Maat-Kievit, Bart P. C. van de Warrenburg, Wilson F. Abdo, Sylvia A. Eshuis, Klaus L. Leenders, Ad Hovestadt, Jan C. M. Zijlmans, Jan-Pieter M. Stroy, John C. van Swieten, Agnita J. W. Boon, Klaartje van Engelen, Corien C. Verschuuren-Bemelmans, Saskia A. J. Lesnik-Oberstein, Cristina Tassorelli, Leonardo Lopiano, Vincenzo Bonifati, Dennis Dooijes, Rick van Minkelen
New mutations in the ATM gene and clinical data of 25 AT patients
Ilja Demuth, Véronique Dutrannoy, Wilson Marques Jr, Heidemarie Neitzel, Detlev Schindler, Petja S. Dimova, Krystyna H. Chrzanowska, Veneta Bojinova, Hanna Gregorek, Luitgard M. Graul-Neumann, Arpad von Moers, Ilka Schulze, Marion Nicke, Elcin Bora, Tufan Cankaya, Éva Oláh, Csongor Kiss, Beáta Bessenyei, Katalin Szakszon, Ursula Gruber-Sedlmayr, Peter Michael Kroisel, Sigrun Sodia, Timm O. Goecke, Thilo Dörk, Martin Digweed, Karl Sperling, Joaquim de Sá, Charles Marques Lourenco, Raymonda Varon
Up-regulation of metallothionein gene expression in Parkinsonian astrocytes
Gregory J. Michael, Sharmin Esmailzadeh, Linda B. Moran, Lynne Christian, Ronald K. B. Pearce, Manuel B. Graeber
A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype
Marguerite V. Evans-Galea, Louise A. Corben, Justin Hasell, Charles A. Galea, Michael C. Fahey, Desirée du Sart, Martin B. Delatycki
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske Houben, Ruben van ‘t Slot, Maretha V. de Jonge, Wouter G. Staal, Frits A. Beemer, Jacob A. S. Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease
Ziv Gan-Or, Anat Bar-Shira, Tanya Gurevich, Nir Giladi, Avi Orr-Urtreger
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
Anas M. Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S. Alkuraya
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL)
Michele Ragno, Luigi Pianese, Michele Pinelli, Serena Silvestri, Gabriella Cacchiò, Fabio Di Marzio, Maria Scarcella, Francesco Coretti, Fabiana Altamura, Antonella Monticelli, Imma Castaldo
Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy
Eliecer Coto, Juan Gómez, Belén Alonso, Ana I. Corao, Marta Díaz, Manuel Menéndez, Carmen Martínez, María T. Calatayud, Germán Morís, Victoria Álvarez