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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. Akimoto C, et al. Among authors: kubisch c. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706941 Free PMC article.
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Borck G, et al. Among authors: kubisch c. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22. Hum Genet. 2011. PMID: 20967465
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}; Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F. Lill CM, et al. Among authors: kubisch c. J Med Genet. 2012 Sep;49(9):558-62. doi: 10.1136/jmedgenet-2012-101175. J Med Genet. 2012. PMID: 22972946
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: kubisch c. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.
Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
Rosenbohm A, Kassubek J, Weydt P, Marroquin N, Volk AE, Kubisch C, Huppertz HJ, Weber M, Andersen PM, Weishaupt JH, Ludolph AC; ALS Schwaben Register Group. Rosenbohm A, et al. Among authors: kubisch c. J Neurol. 2014 Feb;261(2):283-90. doi: 10.1007/s00415-013-7185-7. Epub 2013 Nov 20. J Neurol. 2014. PMID: 24253481
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE. Hübers A, et al. Among authors: kubisch c. Neurobiol Aging. 2014 May;35(5):1214.e1-6. doi: 10.1016/j.neurobiolaging.2013.11.034. Epub 2013 Dec 4. Neurobiol Aging. 2014. PMID: 24378086
271 results