S
Stephen R. Dlouhy
Researcher at Indiana University
Publications - 111
Citations - 5010
Stephen R. Dlouhy is an academic researcher from Indiana University. The author has contributed to research in topics: Proteolipid protein 1 & Pelizaeus–Merzbacher disease. The author has an hindex of 36, co-authored 111 publications receiving 4830 citations. Previous affiliations of Stephen R. Dlouhy include Indiana University – Purdue University Indianapolis.
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Journal ArticleDOI
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
Nancy S. Wexler,Judith Lorimer,Julie Porter,Fidela Gomez,Carol Moskowitz,Edith Shackell,Karen Marder,Penchaszadeh Gk,Simone A. Roberts,Javier Gayán,Denise Brocklebank,Stacey S. Cherny,Lon R. Cardon,Jacqueline Gray,Stephen R. Dlouhy,Sandra Wiktorski,Marion E. Hodes,P. Michael Conneally,J. B. Penney,James F. Gusella,Jang Ho Cha,Michael C. Irizarry,Diana Rosas,Steven M. Hersch,Zane R. Hollingsworth,Marcy E. MacDonald,Anne B. Young,J. Michael Andresen,David E. Housman,Margot de Young,Ernesto Bonilla,Theresa Stillings,Américo Negrette,S. Robert Snodgrass,Maria Dolores Martinez-Jaurrieta,Maria A. Ramos-Arroyo,Jacqueline Bickham,Juan Sanchez Ramos,Frederick J. Marshall,Ira Shoulson,Gustavo Rey,Andrew Feigin,Norman Arnheim,Amarilis Acevedo-Cruz,Leticia Acosta,Jose Alvir,Kenneth H. Fischbeck,Leslie M. Thompson,Angela Young,Leon S. Dure,Christopher J. O'Brien,Jane S. Paulsen,Adam M. Brickman,Denise Krch,Shelley Peery,Penelope Hogarth,Donald S. Higgins,Bernhard Landwehrmeyeri +57 more
TL;DR: A model estimated the components of additive genetic, shared environment, and nonshared environment variances confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental.
Journal ArticleDOI
Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.
Bernardino Ghetti,Pedro Piccardo,Maria Grazia Spillantini,Yousuke Ichimiya,M. Porro,Francesco Perini,Tetsuyuki Kitamoto,Jun Tateishi,Charles Seiler,Blas Frangione,Orso Bugiani,Giorgio Giaccone,Frances Prelli,Michel Goedert,Stephen R. Dlouhy,Fabrizio Tagliavini +15 more
TL;DR: A PrP cerebral amyloid angiopathy (PrP-CAA) has been reported in diseases caused by PRNP mutations or in human transmissible spongiform encephalopathies as discussed by the authors.
Journal ArticleDOI
Mutant prion proteins in gerstmann-sträussler-scheinker disease with neurofibrillary tangles
Karen Hsiao,Stephen R. Dlouhy,Martin R. Farlow,Carin Cass,Maria Da Costa,P. Michael Conneally,Marion E. Hodes,Bernardino Ghetti,Stanley B. Prusiner +8 more
TL;DR: These mutations in PrP are the first to be associated with the appear ance of both PrP amyloid plaques and neocortical NFTs in GSS patients.
Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles
Bernardino Ghetti,Pedro Piccardo,Maria Grazia Spillantini,Y Ichimiya,M. Porro,Francesco Perini,Tetsuyuki Kitamoto,Jun Tateishi,C. Seiler,B. Frangione,Orso Bugiani,Giorgio Giaccone,Frances Prelli,Michel Goedert,Stephen R. Dlouhy,Fabrizio Tagliavini +15 more
TL;DR: A PrP cerebral amyloid angiopathy has not been reported in diseases caused by PRNP mutations or in human transmissible spongiform encephalopathies and is proposed to be named PrP-CAA, suggesting that PrP from the normal allele is involved in the pathologic process.
Journal ArticleDOI
Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity
Pedro Piccardo,Stephen R. Dlouhy,Patricia M.-J. Lievens,Katherine Young,Thomas D. Bird,David Nochlin,Dennis W. Dickson,Harry V. Vinters,T. R. Zimmerman,Ian R. A. Mackenzie,Stephen J. Kish,Lee Cyn Ang,Charles De Carli,Maurizio Pocchiari,Paul Brown,Clarence J. Gibbs,D. Carlton Gajdusek,Orso Bugiani,James W. Ironside,Fabrizio Tagliavini,Bernardino Ghetti +20 more
TL;DR: GSS is characterized by the presence PrP isoforms that can be partially cleaved to low molecular weight PrPres peptides, which suggests that spongiform changes in GSS are related to the presence of high levels of these distinct 21-30 kDa isoforms.