Pauciulo MW - Search Results

1

Alpha-synuclein and familial Parkinson's disease.

Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Pfeiffer RF, Foroud T; Parkinson Study Group - PROGENI Investigators. Pankratz N, et al. Among authors: pauciulo mw. Mov Disord. 2009 Jun 15;24(8):1125-31. doi: 10.1002/mds.22524. Mov Disord. 2009. PMID: 19412953 Free PMC article.

2

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.

Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC. Machado RD, et al. Among authors: pauciulo mw. Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291. Genomics. 2000. PMID: 10964520

3

Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.

Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T. Nichols WC, et al. Among authors: pauciulo mw. J Med Genet. 2002 Jul;39(7):489-92. doi: 10.1136/jmg.39.7.489. J Med Genet. 2002. PMID: 12114481 Free PMC article. No abstract available.

4

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.

5

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

Koehler R, Grünig E, Pauciulo MW, Hoeper MM, Olschewski H, Wilkens H, Halank M, Winkler J, Ewert R, Bremer H, Kreuscher S, Janssen B, Nichols WC. Koehler R, et al. Among authors: pauciulo mw. J Med Genet. 2004 Dec;41(12):e127. doi: 10.1136/jmg.2004.023101. J Med Genet. 2004. PMID: 15591269 Free PMC article. No abstract available.

6

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Among authors: pauciulo mw. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616

7

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC. Cogan JD, et al. Among authors: pauciulo mw. Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. doi: 10.1164/rccm.200602-165OC. Epub 2006 May 25. Am J Respir Crit Care Med. 2006. PMID: 16728714 Free PMC article.

8

Mutations in DJ-1 are rare in familial Parkinson disease.

Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Shults CW, Foroud T, Nichols WC; Parkinson Study Group - PROGENI Investigators. Pankratz N, et al. Among authors: pauciulo mw. Neurosci Lett. 2006 Nov 20;408(3):209-13. doi: 10.1016/j.neulet.2006.09.003. Epub 2006 Sep 25. Neurosci Lett. 2006. PMID: 16997464 Free PMC article.

9

Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.

Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators. Pankratz N, et al. Among authors: pauciulo mw. Mov Disord. 2006 Dec;21(12):2257-60. doi: 10.1002/mds.21162. Mov Disord. 2006. PMID: 17078063

10

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

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