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Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.
Rindermann M, Grünig E, von Hippel A, Koehler R, Miltenberger-Miltenyi G, Mereles D, Arnold K, Pauciulo M, Nichols W, Olschewski H, Hoeper MM, Winkler J, Katus HA, Kübler W, Bartram CR, Janssen B. Rindermann M, et al. J Am Coll Cardiol. 2003 Jun 18;41(12):2237-44. doi: 10.1016/s0735-1097(03)00491-1. J Am Coll Cardiol. 2003. PMID: 12821254 Free article.
R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T; Parkinson Study Group - PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Mov Disord. 2007 Jan 15;22(2):254-7. doi: 10.1002/mds.21233. Mov Disord. 2007. PMID: 17149721
LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.
Nichols WC, Elsaesser VE, Pankratz N, Pauciulo MW, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T; Parkinson Study Group-PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Neurology. 2007 Oct 30;69(18):1737-44. doi: 10.1212/01.wnl.0000278115.50741.4e. Epub 2007 Sep 5. Neurology. 2007. PMID: 17804834
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Neurology. 2009 Jan 27;72(4):310-6. doi: 10.1212/01.wnl.0000327823.81237.d1. Epub 2008 Nov 5. Neurology. 2009. PMID: 18987351 Free PMC article.
85 results