Search Results - "Pfeiffer, F R"

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset by NICHOLS, W. C, PANKRATZ, N, MAREK, D. K, PAUCIULO, M. W, ELSAESSER, V. E, HALTER, C. A, RUDOLPH, A, WOJCIESZEK, J, PFEIFFER, R. F, FOROUD, T

“…To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD)…”
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Novel THAP1 sequence variants in primary dystonia by XIAO, J, ZHAO, Y, VAN GERPEN, J. A, SIMON, D. K, TARSY, D, HEDERA, P, TRUONG, D. D, FREI, K. P, DEV BATISH, S, BLITZER, A, PFEIFFER, R. F, GONG, S, BASTIAN, R. W, LEDOUX, M. S, PERLMUTTER, J. S, RACETTE, B. A, TABBAL, S. D, KARIMI, M, PANIELLO, R. C, WSZOLEK, Z. K, UITTI, R. J

“…THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion…”
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Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations by PANKRATZ, N, KISSELL, D. K, PAUCIULO, M. W, HALTER, C. A, RUDOLPH, A, PFEIFFER, R. F, MARDER, K. S, FOROUD, T, NICHOLS, W. C

“…Mutations in both alleles of parkin have been shown to result in Parkinson disease (PD). However, it is unclear whether haploinsufficiency (presence of a…”
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Autosomal dominant parkinsonism associated with variable synuclein and tau pathology by WSZOLEK, Z. K, PFEIFFER, R. F, GASSER, T, CALNE, D. B, DICKSON, D. W, TSUBOI, Y, UITTI, R. J, MCCOMB, R. D, STOESSL, A. J, STRONGOSKY, A. J, ZIMPRICH, A, MÜLLER-MYHSOK, B, FARRER, M. J

“…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…”
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Variation in GIGYF2 is not associated with Parkinson disease by NICHOLS, W. C, KISSELL, D. K, FOROUD, T, PANKRATZ, N, PAUCIULO, M. W, ELSAESSER, V. E, CLARK, K. A, HALTER, C. A, RUDOLPH, A, WOJCIESZEK, J, PFEIFFER, R. F

“…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…”
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A family with parkinsonism, essential tremor, restless legs syndrome, and depression by PUSCHMANN, A, PFEIFFER, R. F, DICKSON, D. W, WSZOLEK, Z. K, STOESSL, A. J, KURIAKOSE, R, LASH, J. L, SEARCY, J. A, STRONGOSKY, A. J, VILARINO-GÜELL, C, FARRER, M. J, ROSS, O. A

“…Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS). We…”
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Autonomic dysfunction in Parkinson's disease: a comprehensive symptom survey by Siddiqui, M.F, Rast, S, Lynn, M.J, Auchus, A.P, Pfeiffer, R.F

“…Background: Autonomic dysfunction occurs in Parkinson's disease (PD), but few studies have addressed it in a comprehensive manner. Methods: Autonomic symptoms…”
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Gastrointestinal involvement in Parkinson's disease: the horse or the cart by Pfeiffer, R. F.

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Gastrointestinal symptoms in Parkinson's disease by Edwards, L L, Pfeiffer, R F, Quigley, E M, Hofman, R, Balluff, M

“…We have investigated the prevalence of gastrointestinal (GI) symptoms in 98 individuals with Parkinson's disease (PD) and in a control group of 50…”
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Constipation in parkinson's disease: Objective assessment and response to psyllium by Ashraf, Waseem, Pfeiffer, Ronald F., Park, Faye, Lof, John, Quigley, Eamonn M. M.

“…We evaluated the reliability of patient history and the effect of psyllium on symptoms and colorectal function in 12 patients with Parkinson's disease (PD) and…”
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A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation by Markopoulou, K, Wszolek, Z K, Pfeiffer, R F

“…Interest is increasing concerning the role of genetic factors in the etiology of Parkinson's disease. We report the analysis of a Greek-American kindred with…”
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Gastrointestinal symptoms in Parkinson disease: 18-month follow-up study by Edwards, L, Quigley, E M, Hofman, R, Pfeiffer, R F

“…In a recent study we identified abnormal salivation, dysphagia, nausea, constipation, and defecatory dysfunction as those gastrointestinal (GI) symptoms…”
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Expression and regulation of brain metallothionein by Ebadi, M., Iversen, P.L., Hao, R., Cerutis, D.R., Rojas, P., Happe, H.K., Murrin, L.C., Pfeiffer, R.F.

“…Many, but not all, zinc-containing neurons in the brain are a subclass of the glutamatergic neurons, and they are found predominantly in the telencephalon…”
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Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration by Wszolek, Z K, Pfeiffer, R F, Bhatt, M H, Schelper, R L, Cordes, M, Snow, B J, Rodnitzky, R L, Wolters, E C, Arwert, F, Calne, D B

“…We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease…”
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Gastrointestinal dysfunction in Parkinson's disease : frequency and pathophysiology by EDWARDS, L. L, QUIGLEY, E. M. M, PFEIFFER, R. F

“…Although more extensive research is required to fully characterize the pathophysiology of the gastrointestinal symptoms in PD, much of the presently available…”
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Western Nebraska Family (Family D) with Autosomal Dominant Parkinsonism by Wszolek, Z K, Pfeiffer, B, Fulgham, J R, Parisi, J E, Thompson, B M, Uitti, R J, Calne, D B, Pfeiffer, R F

“…Article abstract-The etiology of Parkinson's disease (PD) remains uncertain. Environmental influences may have an important role, but genetic factors have been…”
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Olfactory dysfunction in familial parkinsonism by MARKOPOULOU, K, LARSEN, K. W, WSZOLEK, E. K, DENSON, M. A, LANG, A. E, PFEIFFER, R. F, WSZOLEK, Z. K

“…Impaired olfactory function is commonly observed in idiopathic Parkinson's disease (IPD). However, it is unknown whether it is also found in familial…”
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Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21 by Wijker, Mario, Wszolek, Zbigniew K., Wolters, Eric C. H., Rooimans, Martin A., Pals, Gerard, Pfeiffer, Ronald F., Lynch, Timothy, Rodnitzky, R. L., Wilhelmsen, Kirk C., Arwert, Fré

“…Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) is a neurodegenerative disorder which begins…”
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Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology by Zimprich, Alexander, Biskup, Saskia, Leitner, Petra, Lichtner, Peter, Farrer, Matthew, Lincoln, Sarah, Kachergus, Jennifer, Hulihan, Mary, Uitti, Ryan J., Calne, Donald B., Stoessl, A.Jon, Pfeiffer, Ronald F., Patenge, Nadja, Carbajal, Iria Carballo, Vieregge, Peter, Asmus, Friedrich, Müller-Myhsok, Bertram, Dickson, Dennis W., Meitinger, Thomas, Strom, Tim M., Wszolek, Zbigniew K., Gasser, Thomas

“…We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination…”
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Reduced expression of the G209A α-synuclein allele in familial parkinsonism by Markopoulou, Katerina, Wszolek, Zbigniew K., Pfeiffer, Ronald F., Chase, Bruce A.

“…Missense mutations at the α‐synuclein gene have been associated with familial parkinsonism. We report that the phenotype of a kindred (Family H) with autosomal…”
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