Search Results - "WSZOLEK, Z"

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation by Konno, T., Yoshida, K., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S.‐I., Nishizawa, M., Onodera, O., Wszolek, Z. K., Ikeuchi, T.

“…Background and purpose The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult‐onset leukoencephalopathy with axonal…”
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Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity? by WIDER, C, VAN GERPEN, J. A, DEARMOND, S, SHUSTER, E. A, DICKSON, D. W, WSZOLEK, Z. K

“…Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset…”
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Progression of dopaminergic dysfunction in a LRRK2 kindred : A multitracer PET study by NANDHAGOPAL, R, MAK, E, STOESSL, A. J, SCHULZER, M, MCKENZIE, J, MCCORMICK, S, SOSSI, V, RUTH, T. J, STRONGOSKY, A, FARRER, M. J, WSZOLEK, Z. K

“…Little is known about the progression of dopaminergic dysfunction in LRRK2-associated Parkinson disease (PD). We sought to characterize the neurochemical…”
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Atypical parkinsonian syndromes: a general neurologist's perspective by Deutschländer, A. B., Ross, O. A., Dickson, D. W., Wszolek, Z. K.

“…The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are…”
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Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images by Whitwell, J. L., Boeve, B. F., Weigand, S. D., Senjem, M. L., Gunter, J. L., Baker, M. C., DeJesus-Hernandez, M., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R., Jack Jr, C. R., Josephs, K. A.

“…Background and purpose The aim of our study was to determine the utility of longitudinal magnetic resonance imaging (MRI) measurements as potential biomarkers…”
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Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN by WHITWELL, J. L, JACK, C. R, JOSEPHS, K. A, BOEVE, B. F, SENJEM, M. L, BAKER, M, RADEMAKERS, R, IVNIK, R. J, KNOPMAN, D. S, WSZOLEK, Z. K, PETERSEN, R. C

“…To compare patterns of gray matter loss in subjects with mutations in the progranulin (PGRN) gene to subjects with mutations in the microtubule-associated…”
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Altered functional connectivity in asymptomatic MAPT subjects: A comparison to bvFTD by WHITWELL, J. L, JOSEPHS, K. A, WSZOLEK, Z. K, KNOPMAN, D. S, RADEMAKERS, R, PETERSEN, R. C, BOEVE, B. F, JACK, C. R, AVULA, R, TOSAKULWONG, N, WEIGAND, S. D, SENJEM, M. L, VEMURI, P, JONES, D. T, GUNTER, J. L, BAKER, M

“…To determine whether functional connectivity is altered in subjects with mutations in the microtubule associated protein tau (MAPT) gene who were asymptomatic…”
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Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder by Boeve, B.F, Silber, M.H, Ferman, T.J, Lin, S.C, Benarroch, E.E, Schmeichel, A.M, Ahlskog, J.E, Caselli, R.J, Jacobson, S, Sabbagh, M, Adler, C, Woodruff, B, Beach, T.G, Iranzo, A, Gelpi, E, Santamaria, J, Tolosa, E, Singer, C, Mash, D.C, Luca, C, Arnulf, I, Duyckaerts, C, Schenck, C.H, Mahowald, M.W, Dauvilliers, Y, Graff-Radford, N.R, Wszolek, Z.K, Parisi, J.E, Dugger, B, Murray, M.E, Dickson, D.W

“…Abstract Objective To determine the pathologic substrates in patients with rapid eye movement (REM) sleep behavior disorder (RBD) with or without a coexisting…”
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Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation by Konno, T., Yoshida, K., Mizuta, I., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S.‐I., Onodera, O., Wszolek, Z. K., Ikeuchi, T.

“…Background and purpose To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to…”
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DLB and PDD boundary issues : Diagnosis, treatment, molecular pathology, and biomarkers by LIPPA, C. F, DUDA, J. E, FAHN, S, FARMER, J. M, GALASKO, D, GALVIN, J. E, GOETZ, C. G, GROWDON, J. H, GWINN-HARDY, K. A, HARDY, J, HEUTINK, P, IWATSUBO, T, GROSSMAN, M, KOSAKA, K, LEE, V. M.-Y, LEVERENZ, J. B, MASLIAH, E, MCKEITH, I. G, NUSSBAUM, R. L, OLANOW, C. W, RAVINA, B. M, SINGLETON, A. B, TANNER, C. M, HURTIG, H. I, TROJANOWSKI, J. Q, WSZOLEK, Z. K, AARSLAND, D, BOEVE, B. F, BROOKS, D. J, DICKSON, D. W, DUBOIS, B, EMRE, M

“…For more than a decade, researchers have refined criteria for the diagnosis of dementia with Lewy bodies (DLB) and at the same time have recognized that…”
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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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Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease by Boeve, B. F., Silber, M. H., Saper, C. B., Ferman, T. J., Dickson, D. W., Parisi, J. E., Benarroch, E. E., Ahlskog, J. E., Smith, G. E., Caselli, R. C., Tippman-Peikert, M., Olson, E. J., Lin, S.-C., Young, T., Wszolek, Z., Schenck, C. H., Mahowald, M. W., Castillo, P. R., Del Tredici, K., Braak, H.

“…REM sleep behaviour disorder (RBD) is a parasomnia characterized by the loss of normal skeletal muscle atonia during REM sleep with prominent motor activity…”
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Inclusion of RBD improves the diagnostic classification of dementia with Lewy bodies by FERMAN, T. J, BOEVE, B. F, PAO, W, KNOPMAN, D, PANKRATZ, V. S, KANTARCI, K, BOOT, B, PARISI, J. E, DUGGER, B. N, FUJISHIRO, H, PETERSEN, R. C, DICKSON, D. W, SMITH, G. E, LIN, S.-C, SILBER, M. H, PEDRAZA, O, WSZOLEK, Z, GRAFF-RADFORD, N. R, UITTI, R, VAN GERPEN, J

“…To determine whether adding REM sleep behavior disorder (RBD) to the dementia with Lewy bodies (DLB) diagnostic criteria improves classification accuracy of…”
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Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia by Konno, T, Broderick, D F, Mezaki, N, Isami, A, Kaneda, D, Tashiro, Y, Tokutake, T, Keegan, B M, Woodruff, B K, Miura, T, Nozaki, H, Nishizawa, M, Onodera, O, Wszolek, Z K, Ikeuchi, T

“…Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the colony stimulating…”
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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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NOVEL p.Ile151Val MUTATION IN VCP IN A PATIENT OF AFRICAN AMERICAN DESCENT WITH SPORADIC ALS by DEJESUS-HERNANDEZ, M, DESARO, P, JOHNSTON, A, ROSS, O. A, WSZOLEK, Z. K, ERTEKIN-TANER, N, GRAFF-RADFORD, N. R, RADEMAKERS, R, BOYLAN, K

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Parkinson disease : Handedness predicts asymmetry by UITTI, R. J, BABA, Y, WHALEY, N. R, WSZOLEK, Z. K, PUTZKE, J. D

“…To determine the proportion of individuals in a clinic-based setting that present with asymmetric Parkinson disease (PD) and identify predictive factors…”
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers by FINCH, N, CARRASQUILLO, M. M, CROOK, J, FINGER, E, HANTANPAA, K. J, KARYDAS, A. M, SENGDY, P, GONZALEZ, J, SEELEY, W. W, JOHNSON, N, BEACH, T. G, MESULAM, M, BAKER, M, FORLONI, G, KERTESZ, A, KNOPMAN, D. S, UITTI, R, WHITE, C. L, CASELLI, R, LIPPA, C, BIGIO, E. H, WSZOLEK, Z. K, BINETTI, G, RUTHERFORD, N. J, MACKENZIE, I. R, MILLER, B. L, BOEVE, B. F, YOUNKIN, S. G, DICKSON, D. W, PETERSEN, R. C, GRAFF-RADFORD, N. R, GESCHWIND, D. H, RADEMAKERS, R, COPPOLA, G, DEJESUS-HERNANDEZ, M, CROOK, R, HUNTER, T, GHIDONI, R, BENUSSI, L

“…To determine whether TMEM106B single nucleotide polymorphisms (SNPs) are associated with frontotemporal lobar degeneration (FTLD) in patients with and without…”
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Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy by Tacik, P., Sanchez‐Contreras, M., DeTure, M., Murray, M. E., Rademakers, R., Ross, O. A., Wszolek, Z. K., Parisi, J. E., Knopman, D. S., Petersen, R. C., Dickson, D. W.

“…Aim The p.P301L mutation in microtubule‐associated protein tau (MAPT) is a common cause of frontotemporal dementia and parkinsonism linked to chromosome 17…”
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Atrophy patterns in IVS10 + 16, IVS10 + 3, N279K, S305N, P301L, and V337M MAPT mutations by WHITWELL, J. L, JACK, C. R, JOSEPHS, K. A, BOEVE, B. F, SENJEM, M. L, BAKER, M, IVNIK, R. J, KNOPMAN, D. S, WSZOLEK, Z. K, PETERSEN, Rc, RADEMAKERS, R

“…To use a case-control study to assess and compare patterns of gray matter loss across groups of subjects with different mutations in the microtubule-associated…”
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