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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.
Ducros A, Nagy T, Alamowitch S, Nibbio A, Joutel A, Vahedi K, Chabriat H, Iba-Zizen MT, Julien J, Davous P, Goas JY, Lyon-Caen O, Dubois B, Ducrocq X, Salsa F, Ragno M, Burkhard P, Bassetti C, Hutchinson M, Vérin M, Viader F, Chapon F, Levasseur M, Mas JL, Delrieu O, et al. Ducros A, et al. Among authors: burkhard p. Am J Hum Genet. 1996 Jan;58(1):171-81. Am J Hum Genet. 1996. PMID: 8554054 Free PMC article.
VPS35 mutations in Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. Vilariño-Güell C, et al. Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Am J Hum Genet. 2011. PMID: 21763482 Free PMC article.
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ. Wider C, et al. Among authors: burkhard pr. Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. doi: 10.1212/01.wnl.0000275527.35752.c5. Epub 2007 Sep 5. Neurology. 2008. PMID: 17804835 Free PMC article.
288 results