R F Pfeiffer
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Explore the profile of R F Pfeiffer including associated specialties, affiliations and a list of published articles.
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88
Citations
1183
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Recent Articles
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2.
Puschmann A, Pfeiffer R, Stoessl A, Kuriakose R, Lash J, Searcy J, et al.
Neurology
. 2011 May;
76(19):1623-30.
PMID: 21555728
Background: Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS). Methods: We describe the clinical, PET, and pathologic...
3.
Xiao J, Zhao Y, Bastian R, Perlmutter J, Racette B, Tabbal S, et al.
Neurology
. 2010 Jan;
74(3):229-38.
PMID: 20083799
Background: THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in THAP1 is responsible for DYT6...
4.
Pankratz N, Kissell D, Pauciulo M, Halter C, Rudolph A, Pfeiffer R, et al.
Neurology
. 2009 Jul;
73(4):279-86.
PMID: 19636047
Objective: Mutations in both alleles of parkin have been shown to result in Parkinson disease (PD). However, it is unclear whether haploinsufficiency (presence of a mutation in only 1 of...
5.
Nichols W, Kissell D, Pankratz N, Pauciulo M, Elsaesser V, Clark K, et al.
Neurology
. 2009 Mar;
72(22):1886-92.
PMID: 19279319
Objective: A recent study reported that mutations in a gene on chromosome 2q36-37, GIGYF2, result in Parkinson disease (PD). We have previously reported linkage to this chromosomal region in a...
6.
Nichols W, Pankratz N, Marek D, Pauciulo M, Elsaesser V, Halter C, et al.
Neurology
. 2008 Nov;
72(4):310-6.
PMID: 18987351
Objective: To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our...
7.
Wszolek Z, Vieregge P, Uitti R, Gasser T, Yasuhara O, McGeer P, et al.
Parkinsonism Relat Disord
. 2008 Jul;
3(3):125-39.
PMID: 18591067
Etiology of Parkinson's disease (PD), amyotrophy lateral sclerosis (ALS), and Alzheimer's disease (AD) remains uncertain. Environmental factors probably play a role, but genetic influences may predispose certain individuals to develop...
8.
Wszolek Z, Pfeiffer R, Tsuboi Y, Uitti R, McComb R, Stoessl A, et al.
Neurology
. 2004 May;
62(9):1619-22.
PMID: 15136696
Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and...
9.
Ebadi M, Ramana Kumari M, Hiramatsu M, Hao R, Pfeiffer R, Rojas P
Restor Neurol Neurosci
. 2003 Apr;
12(2-3):103-11.
PMID: 12671304
The finding that 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) elicits parkinsonism in human beings suggests that endogenous or xenobiotic neurotoxic compounds may be involved in the etiology of Parkinson's disease (PD). We have shown...
10.
Siddiqui M, Rast S, Lynn M, Auchus A, Pfeiffer R
Parkinsonism Relat Disord
. 2002 Jun;
8(4):277-84.
PMID: 12039423
Background: Autonomic dysfunction occurs in Parkinson's disease (PD), but few studies have addressed it in a comprehensive manner. Methods: Autonomic symptoms were evaluated by a questionnaire in sixty-eight subjects (44...