90 Publications (Page 3 of 4)
2005
Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene.
Yamaguchi, Keiji⋅Cochran, Elizabeth J⋅Murrell, Jill R⋅Polymeropoulos, Mihael H⋅Shannon, Kathleen M⋅Crowther, R A⋅Goedert, Michel and Ghetti, Bernardino
Acta neuropathologica, vol. 110, (no. 3), pp. 298-305, 2005/Sep. | Journal Article
 
Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation
Boeve, BF⋅Boeve, B.F.⋅Boeve, Bradley F⋅Tremont-Lukats, IW⋅Tremont-Lukats, I.W.⋅Tremont-Lukats, Ivo W⋅Waclawik, A.J.⋅Waclawik, Andrew J⋅Waclawik, AJ⋅Murrell, J.R.⋅Murrell, Jill R⋅Murrell, JR⋅Hermann, Bruce⋅Hermann, B⋅Hermann, B.⋅Jack, Clifford R⋅Jack Jr., C.R.⋅Shiung, MM⋅Shiung, M.M.⋅Shiung, Maria M⋅Smith, G.E.⋅Smith, Glenn E⋅Smith, GE⋅Nair, Anil R⋅Nair, AR⋅Nair, A.R.⋅Lindor, N⋅Lindor, N.⋅Lindor, Noralane⋅Koppikar, V⋅Koppikar, V.⋅Koppikar, Vinaya⋅Ghetti, B⋅Ghetti, B. and Ghetti, Bernardino
Brain, vol. 128, (no. 4), pp. 752-72, Apr 01, 2005. | Journal Article
 
Slow wave and REM sleep mechanisms are differently altered in hereditary pick disease associated with the Tau G389R mutation
Gemignani, Angelo⋅Pietrini, Pietro⋅Murrell, Jill R⋅Glazier, BS⋅Zolo, P.⋅Guazzelli, Mario and Ghetti, Bernardino
Archives Italiennes de Biologie, vol. 143, (no. 1), pp. 65-79, 2005. | Journal Article
 
The effect of tau genotype on clinical features in FTDP-17.
Baba, Yasuhiko⋅Baba, Yasuhiko⋅Tsuboi, Yoshio⋅Tsuboi, Yoshio⋅Baker, Matthew C⋅Baker, Matthew C⋅Uitti, Ryan J⋅Uitti, Ryan J⋅Hutton, Michael L⋅Hutton, Michael L⋅Dickson, Dennis W⋅Dickson, Dennis W⋅Farrer, Matthew⋅Farrer, Matthew⋅Putzke, John D⋅Putzke, John D⋅Woodruff, Bryan K⋅Woodruff, Bryan K⋅Ghetti, Bernardino⋅Ghetti, Bernardino⋅Murrell, Jill R⋅Murrell, Jill R⋅Boeve, Bradley F⋅Boeve, Bradley F⋅Petersen, Ronald C⋅Petersen, Ronald C⋅Verpillat, Patrice⋅Verpillat, Patrice⋅Brice, Alexis⋅Brice, Alexis⋅Delisle, Marie-Bernadette⋅Delisle, Marie-Bernadette⋅Rascol, Oliver⋅Rascol, Oliver⋅Arima, Kunimasa⋅Arima, Kunimasa⋅Dysken, Maurice W⋅Dysken, Maurice W⋅Yasuda, Minoru⋅Yasuda, Minoru⋅Kobayashi, Tomonori⋅Kobayashi, Tomonori⋅Sunohara, Nobuhiko⋅Sunohara, Nobuhiko⋅Komure, Osamu⋅Komure, Osamu⋅Kuno, Sadako⋅Kuno, Sadako⋅Sperfeld, Anne Dorte⋅Sperfeld, Anne D⋅Stoppe, Gabriela⋅Stoppe, Gabriela⋅Kohlhase, Jürgen⋅Kohlhase, Jürgen⋅Pickering-Brown, Stuart⋅Pickering-Brown, Stuart⋅Neary, David⋅Neary, David⋅Bugiani, Orso⋅Bugiani, Orso⋅Wszolek, Zbigniew K and Wszolek, Zbigniew K
Parkinsonism & related disorders, vol. 11, (no. 4), pp. 205-8, 2005/Jun. | Journal Article
2004
Early-onset dementia with Lewy bodies.
Takao, Masaki⋅Takao, Masaki⋅Ghetti, Bernardino⋅Ghetti, Bernardino⋅Yoshida, Hirotaka⋅Yoshida, Hirotaka⋅Piccardo, Pedro⋅Piccardo, Pedro⋅Narain, Yolanda⋅Narain, Yolanda⋅Murrell, Jill R⋅Murrell, Jill R⋅Vidal, Ruben⋅Vidal, Ruben⋅Glazier, Bradley S⋅Glazier, Bradley S⋅Jakes, Ross⋅Jakes, Ross⋅Tsutsui, Miho⋅Tsutsui, Miho⋅Spillantini, Maria G⋅Spillantini, Maria Grazia⋅Crowther, R A⋅Crowther, R. Anthony⋅Goedert, Michel⋅Goedert, Michel⋅Koto, Atsuo and Koto, Atsuo
Brain pathology (Zurich, Switzerland), vol. 14, (no. 2), pp. 137-47, 2004/Apr. | Journal Article
2003
Apolipoprotein E and mortality in African-Americans and Yoruba
Lane, KA⋅Gao, Sujuan⋅Hui, Siu L⋅Murrell, Jill R⋅Hall, Kathleen S and Hendrie, Hugh C
Journal of Alzheimer's Disease, vol. 5, (no. 5), pp. 383-390, 2003. | Journal Article
 
Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African-Americans
Desai, Purnima P⋅Hendrie, Hugh C⋅Evans, Rebecca M⋅Murrell, Jill R⋅Dekosky, Steven T and Kamboh, MIlyas
American Journal of Medical Genetics B, vol. 116B, (no. 1), pp. 98-101, 2003. | Journal Article
 
Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African-Americans.
Desai, Purnima P⋅PP, Desai⋅Hendrie, Hugh C⋅HC, Hendrie⋅Evans, Rebecca M⋅RM, Evans⋅JR, Murrell⋅Murrell, Jill R⋅Dekosky, Steven T⋅ST, DeKosky⋅MI, Kamboh and Kamboh, M. I
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol. 116, (no. 1), pp. 98-101, 2003/Jan/1. | Journal Article
 
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
Pankratz, N.⋅Pankratz, N.⋅Pankratz, Nathan⋅Nichols, W.C.⋅Nichols, William C⋅Nichols, W.C.⋅Uniacke, Sean K⋅Uniacke, S.K.⋅Uniacke, S.K.⋅Halter, Cheryl⋅Halter, C.⋅Halter, C.⋅Murrell, Jill R⋅Murrell, J.⋅Murrell, J.⋅Rudolph, A.⋅Rudolph, A.⋅Rudolph, Alice⋅Shults, Clifford W⋅Shults, C.W.⋅Shults, C.W.⋅Conneally, P. M⋅Conneally, P.M.⋅Conneally, P.M.⋅Foroud, Tatiana M⋅Foroud, T.⋅Foroud, T.⋅Truong, D.⋅Truong, D.⋅Pathak, M.⋅Pathak, M.⋅Tran, A.⋅Tran, A.⋅Rodnitzky, R.⋅Rodnitzky, R.⋅Dobson, J.⋅Dobson, J.⋅Koller, W.⋅Koller, W.⋅Weiner, W.⋅Weiner, W.⋅Lyons, K.⋅Lyons, K.⋅Kurlan, R.⋅Kurlan, R.⋅Berry, D.⋅Berry, D.⋅Bertoni, J.⋅Bertoni, J.⋅Peterson, C.⋅Peterson, C.⋅Martin, W.⋅Martin, W.⋅Wieler, M.⋅Wieler, M.⋅Tuite, P.⋅Tuite, P.⋅Schacherer, R.⋅Schacherer, R.⋅Marder, K.⋅Marder, K.⋅Harris, J.⋅Harris, J.⋅Jankovic, J.⋅Jankovic, J.⋅Hunter, C.⋅Hunter, C.⋅Lang, A.⋅Lang, A.⋅Kleimer-Fisman, G.⋅Kleimer-Fisman, G.⋅Nieves, A.⋅Nieves, A.⋅So, J.⋅So, J.⋅Factor, S.⋅Factor, S.⋅Evans, S.⋅Evans, S.⋅Manyam, B.⋅Manyam, B.⋅Wulbrecht, B.⋅Wulbrecht, B.⋅Walker, F.⋅Walker, F.⋅Hunt, V.⋅Hunt, V.⋅Gordon, M.F.⋅Gordon, M.F.⋅Hamman, J.⋅Hamman, J.⋅Kang, U.J.⋅Kang, U.J.⋅Young, J.⋅Young, J.⋅Blindauer, K.⋅Blindauer, K.⋅Petit, J.⋅Petit, J.⋅Rao, J.⋅Rao, J.⋅Cook, M.⋅Cook, M.⋅Stacy, M.⋅Stacy, M.⋅Williamson, K.⋅Williamson, K.⋅Pullman, R.S.⋅Pullman, R.S.⋅Boyar, K.⋅Boyar, K.⋅Leehey, M.⋅Leehey, M.⋅Derian, T.⋅Derian, T.⋅Gordon, P.⋅Gordon, P.⋅Werner, J.⋅Werner, J.⋅Racette, B.⋅Racette, B.⋅Good, L.⋅Good, L.⋅Simon, D.⋅Simon, D.⋅Scollins, L.⋅Scollins, L.⋅Schwieterman, D.⋅Schwieterman, D.⋅Dewey, R.⋅Dewey, R.⋅Meacham, M.⋅Meacham, M.⋅Sutton, J.⋅Sutton, J.⋅Hutchinson, B.⋅Hutchinson, B.⋅Jog, M.⋅Jog, M.⋅Horn, C.⋅Horn, C.⋅Sethi, K.⋅Sethi, K.⋅Carpenter, J.⋅Carpenter, J.⋅Atchison, P.⋅Atchison, P.⋅Rolli, S.⋅Rolli, S.⋅Sudarsky, L.⋅Sudarsky, L.⋅Corwin, C.⋅Corwin, C.⋅Velickovic, M.⋅Velickovic, M.⋅Phipps, S.⋅Phipps, S.⋅Simuni, T.⋅Simuni, T.⋅Kaczmarek, A.⋅Kaczmarek, A.⋅Hermanowicz, N.⋅Hermanowicz, N.⋅Niswonger, S.⋅Niswonger, S.⋅Feigin, A.⋅Feigin, A.⋅Shannon, B.⋅Shannon, B.⋅Calabrese, V.⋅Calabrese, V.⋅Roberge, P.⋅Roberge, P.⋅Homes, H.⋅Homes, H.⋅Shulman, L.⋅Shulman, L.⋅Dustin, K.⋅Dustin, K.⋅Ajax, T.⋅Ajax, T.⋅Mannetter, J.⋅Mannetter, J.⋅Podskalny, G.D.⋅Podskalny, G.D.⋅Giffin, L.⋅Giffin, L.⋅Uitti, R.⋅Uitti, R.⋅Turk, M.F. and Turk, M.F.
Human Molecular Genetics, vol. 12, (no. 20), pp. 2599-608, Oct 16, 2003. | Journal Article
2002
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
Takao, Masaki⋅Ghetti, Bernardino⋅Hayakawa, Isao⋅Ikeda, Eiji⋅Fukuuchi, Yasuo⋅Miravalle, Leticia⋅Piccardo, Pedro⋅Murrell, Jill R⋅Glazier, Bradley S and Koto, Atsuo
Acta neuropathologica, vol. 104, (no. 2), pp. 155-70, 2002/Aug. | Journal Article
 
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family.
Tsuboi, Yoshio⋅Uitti, Ryan J⋅Delisle, Marie-Bernadette⋅Ferreira, Joaquim J⋅Brefel-Courbon, Christine⋅Rascol, Olivier⋅Ghetti, Bernardino⋅Murrell, Jill R⋅Hutton, Michael⋅Baker, Matthew and Wszolek, Zbigniew K
Archives of neurology, vol. 59, (no. 6), pp. 943-50, 2002/Jun. | Journal Article
 
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
Adamec, Emil⋅Adamec, Emil⋅Murrell, Jill R⋅Murrell, Jill R⋅Takao, Masaki⋅Takao, Masaki⋅Hobbs, Wendy⋅Hobbs, Wendy⋅Nixon, Ralph A⋅Nixon, Ralph A⋅Ghetti, Bernardino⋅Ghetti, Bernardino⋅Vonsattel, Jean P and Vonsattel, Jean P
Journal of the neurological sciences, vol. 200, (no. 1-2), pp. 85-93, 2002/Aug/15. | Journal Article
2001
Biochemical characterization of a neuroserpin variant associated with hereditary dementia.
Yazaki, M⋅Liepnieks, J J⋅Murrell, Jill R⋅Takao, M⋅Guenther, B⋅Piccardo, Pedro⋅Farlow, Martin R⋅Ghetti, Bernardino and Benson, Merrill D
The American journal of pathology, vol. 158, (no. 1), pp. 227-33, 2001/Jan. | Journal Article
 
Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures
Ghetti, Bernardino⋅Murrell, Jill and Unverzagt, Frederick
(pp. 1137-52). Dec 2001
 
Ectopic White Matter Neurons, a Developmental Abnormality That May Be Caused by the PSEN1 S169L Mutation in a Case of Familial AD with Myoclonus and Seizures
Takao, M.⋅Ghetti, Bernardino⋅Murrell, Jill R⋅Unverzagt, Frederick⋅Giaccone, G.⋅Tagliavini, F.⋅Bugiani, O.⋅Piccardo, Pedro⋅Hulette, Christine M⋅Crain, Barbara J⋅Farlow, Martin R and Heyman, Albert
Journal of Neuropathology & Experimental Neurology, vol. 60, (no. 12), pp. 1137-1152, 2001. | Journal Article
2000
early-onset Alzheimer disease caused by a new mutation (B717L) in the amyloid precursor protein gene
Murrell, Jill R⋅Hake, Ann M⋅Quaid, Kimberly A⋅Farlow, Martin R and Ghetti, Bernardino
Archives of Neurology, vol. 57, (no. 6), pp. 885-7, Jun 2000. | Journal Article
 
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
Murrell, Jill R⋅Murrell, Jill R⋅Hake, Ann M⋅Hake, A M⋅Quaid, Kimberly A⋅Quaid, K A⋅Farlow, M R⋅Farlow, Martin R⋅Ghetti, Bernardino and Ghetti, B
Archives of neurology. , vol. 57, (no. 6), pp. 885-7, 2000/Jun. | Journal Article
 
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy
Benson, Merrill⋅Murrell, Jill and Yazaki, Masahide
(pp. 1070-86). Dec 2000
 
Neuroserpin Mutation S52R Causes Neuroserpin Accumulation in Neurons and Is Associated with Progressive Myoclonus Epilepsy
Takao, M.⋅Benson, Merrill D⋅Murrell, Jill R⋅Yazaki, M.⋅Piccardo, Pedro⋅Unverzagt, Frederick⋅Davis, Robin L⋅Holohan, PD⋅Lawrence, Daniel A⋅Richardson, R.⋅Farlow, Martin R and Ghetti, Bernardino
Journal of Neuropathology & Experimental Neurology, vol. 59, (no. 12), pp. 1070-1086, 2000. | Journal Article
 
Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics
Quaid, Kimberly A⋅Murrell, Jill R⋅Hake, Ann M⋅Farlow, Martin R and Ghetti, Bernardino
Journal of Genetic Counseling, vol. 9, (no. 4), pp. 327, Aug 2000. | Journal Article
1999
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
Delisle, M B⋅Murrell, Jill R⋅Richardson, R⋅Trofatter, James⋅Rascol, O⋅Soulages, X⋅Mohr, M⋅Calvas, P and Ghetti, B
Acta neuropathologica, vol. 98, (no. 1), pp. 62-77, 1999/Jul. | Journal Article
 
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
Bugiani, O⋅Murrell, Jill R⋅Giaccone, G⋅Hasegawa, M⋅Ghigo, G⋅Tabaton, Massimo⋅Morbin, M⋅Primavera, A⋅Carella, F⋅Solaro, C⋅Grisoli, M⋅Savoiardo, M⋅Spillantini, Maria G⋅Tagliavini, F⋅Goedert, M and Ghetti, Bernardino
Journal of neuropathology and experimental neurology, vol. 58, (no. 6), pp. 667-77, 1999/Jun. | Journal Article
 
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in Tau
Murrell, Jill⋅Giaccone, Giorgio and Hasegawa, Masato
(pp. 667-77). Jun 1999
 
Mutations in the Tau gene cause frontotemporal dementia
Ghetti, Bernardino⋅Murrell, Jill R and Spillantini, Maria G
Brain Research Bulletin, vol. 50, (no. 5-6), pp. 471-472, 1999. | Journal Article
 
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
Varani, L.⋅Hasegawa, M.⋅Spillantini, Maria G⋅Smith, MJ⋅Murrell, Jill R⋅Ghetti, Bernardino⋅Klug, A.⋅Goedert, M. and Varani, G.
Proceedings of the National Academy of Sciences, USA, vol. 96, (no. 14), pp. 8229-8234, 1999. | Journal Article