Ausgabe 3/2017
Inhalt (8 Artikel)
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3
Megha N. Murthy, Cornelis Blauwendraat, Sebastian Guelfi, John Hardy, Patrick A. Lewis, Daniah Trabzuni
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Male patients affected by mosaic PCDH19 mutations: five new cases
I. M. de Lange, P. Rump, R. F. Neuteboom, P. B. Augustijn, K. Hodges, A. I. Kistemaker, O. F. Brouwer, G. M. S. Mancini, H. A. Newman, Y. J. Vos, K. L. Helbig, C. Peeters-Scholte, M. Kriek, N. V. Knoers, D. Lindhout, B. P. C. Koeleman, M. J. A. van Kempen, E. H. Brilstra
Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship
Toyanji Joseph Punchaichira, Sanjay Kumar Dey, Anirban Mukhopadhyay, Suman Kundu, B. K. Thelma
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients
Meng-Chang Hsiao, Arkadiusz Piotrowski, Andrzej Brunon Poplawski, Tom Callens, Chuanhua Fu, Ludwine Messiaen
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
Miryam Carecchio, Marina Picillo, Lorella Valletta, Antonio E. Elia, Tobias B. Haack, Autilia Cozzolino, Annalisa Vitale, Barbara Garavaglia, Arcangela Iuso, Caterina F. Bagella, Sabina Pappatà, Paolo Barone, Holger Prokisch, Luigi Romito, Valeria Tiranti
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot
Margaret K. King, Enrico Leipold, Jessica M. Goehringer, Ingo Kurth, Thomas D. Challman