Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations Peter ElfferichMarja C. Verleun-MooijmanRick van Minkelen ORIGINAL ARTICLE Open access 13 October 2011 Pages: 263 - 271
New mutations in the ATM gene and clinical data of 25 AT patients Ilja DemuthVéronique DutrannoyRaymonda Varon ORIGINAL ARTICLE 02 October 2011 Pages: 273 - 282
Genetic variability in SNCA and Parkinson’s disease Lasse PihlstrømMathias Toft REVIEW ARTICLE 29 July 2011 Pages: 283 - 293
Up-regulation of metallothionein gene expression in Parkinsonian astrocytes Gregory J. MichaelSharmin EsmailzadehManuel B. Graeber ORIGINAL ARTICLE 29 July 2011 Pages: 295 - 305
A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype Marguerite V. Evans-GaleaLouise A. CorbenMartin B. Delatycki ORIGINAL ARTICLE 10 August 2011 Pages: 307 - 313
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism Emma van DaalenChantal KemnerMartin Poot ORIGINAL ARTICLE Open access 12 August 2011 Pages: 315 - 323
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease Ziv Gan-OrAnat Bar-ShiraAvi Orr-Urtreger ORIGINAL ARTICLE 12 August 2011 Pages: 325 - 332
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) Anas M. AlazamiNouran AdlyFowzan S. Alkuraya SHORT COMMUNICATION Open access 28 July 2011 Pages: 333 - 336
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL) Michele RagnoLuigi PianeseImma Castaldo SHORT COMMUNICATION 01 September 2011 Pages: 337 - 343
Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy Eliecer CotoJuan GómezVictoria Álvarez LETTER TO THE EDITORS 07 August 2011 Pages: 345 - 346
