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Select item 71046731.

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity

Clarissa Valdez, Daniel Ysselstein, Tiffany J Young, Jianbin Zheng, Dimitri Krainc

Hum Mol Genet. 2020 Mar 27; 29(5): 716–726. Published online 2019 Oct 10. doi: 10.1093/hmg/ddz229

PMCID:: PMC7104673

Abstract Article PDF–822K

Select item 66196042.

Progranulin deficiency leads to reduced glucocerebrosidase activity

Xiaolai Zhou, Daniel H. Paushter, Mitchell D. Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L. Lieberman, Herman S. Overkleeft, Ying Sun, Marcus B. Smolka, Fenghua Hu

PLoS One. 2019; 14(7): e0212382. Published online 2019 Jul 10. doi: 10.1371/journal.pone.0212382

PMCID:: PMC6619604

Abstract Article PDF–2.5M

Select item 62371813.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal dementia and GRN mutations: a genome-wide association study

Cyril Pottier, Xiaolai Zhou, Ralph B. Perkerson, III, Matt Baker, Gregory D. Jenkins, Daniel J. Serie, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Prof Adolfo López de Munain, Miren Zulaica, Fermin Moreno, Isabelle Le Ber, Prof Florence Pasquier, Prof Didier Hannequin, Raquel Sánchez-Valle, Anna Antonell, Albert Lladó, Tammee M. Parsons, NiCole A. Finch, Elizabeth C. Finger, Prof Carol F. Lippa, Edward D. Huey, Prof Manuela Neumann, Prof Peter Heutink, Matthis Synofzik, Carlo Wilke, Robert A. Rissman, Prof Jaroslaw Slawek, Emilia Sitek, Peter Johannsen, Jørgen E. Nielsen, Yingxue Ren, Marka van Blitterswijk, Mariely DeJesus-Hernandez, Elizabeth Christopher, Melissa E. Murray, Kevin F. Bieniek, Bret M. Evers, Camilla Ferrari, Sara Rollinson, Anna Richardson, Prof Elio Scarpini, Giorgio G. Fumagalli, Prof Alessandro Padovani, Prof John Hardy, Parastoo Momeni, Raffaele Ferrari, Francesca Frangipane, Raffaele Maletta, Maria Anfossi, Maura Gallo, Prof Leonard Petrucelli, EunRan Suh, Prof Oscar L. Lopez, Tsz H. Wong, Jeroen G. J. van Rooij, Harro Seelaar, Prof Simon Mead, Prof Richard J. Caselli, Prof Eric M. Reiman, Prof Marwan Noel Sabbagh, Mads Kjolby, Prof Anders Nykjaer, Anna M. Karydas, Prof Adam L. Boxer, Lea T. Grinberg, Prof Jordan Grafman, Salvatore Spina, Adrian Oblak, Prof M-Marsel Mesulam, Prof Sandra Weintraub, Prof Changiz Geula, Prof John R. Hodges, Prof Olivier Piguet, William S. Brooks, David J. Irwin, Prof John Q. Trojanowski, Edward B. Lee, Prof Keith A. Josephs, Prof Joseph E. Parisi, Prof Nilüfer Ertekin-Taner, Prof David S. Knopman, Benedetta Nacmias, Irene Piaceri, Silvia Bagnoli, Prof Sandro Sorbi, Marla Gearing, Prof Jonathan Glass, Thomas G. Beach, Prof Sandra E. Black, Mario Masellis, Prof Ekaterina Rogaeva, Prof Jean-Paul Vonsattel, Prof Lawrence S. Honig, Julia Kofler, Prof Amalia C. Bruni, Prof Julie Snowden, Prof David Mann, Prof Stuart Pickering-Brown, Janine Diehl-Schmid, Prof Juliane Winkelmann, Daniela Galimberti, Prof Caroline Graff, Linn Öijerstedt, Claire Troakes, Prof Safa Al-Sarraj, Carlos Cruchaga, Prof Nigel J. Cairns, Jonathan D. Rohrer, Prof Glenda M. Halliday, John B. Kwok, Prof John C. van Swieten, Prof Charles L. White, III, Prof Bernardino Ghetti, Jill R. Murell, Prof Ian R. A. Mackenzie, Ging-Yuek R. Hsiung, Barbara Borroni, Giacomina Rossi, Fabrizio Tagliavini, Prof Zbigniew K. Wszolek, Prof Ronald C. Petersen, Prof Eileen H. Bigio, Prof Murray Grossman, Prof Vivianna M Van Deerlin, Prof William W. Seeley, Prof Bruce L. Miller, Prof Neill R. Graff-Radford, Prof Bradley F. Boeve, Prof Dennis W. Dickson, Prof Joanna M. Biernacka, Prof Rosa Rademakers

Lancet Neurol. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Lancet Neurol. 2018 Jun; 17(6): 548–558. Published online 2018 Apr 30. doi: 10.1016/S1474-4422(18)30126-1

PMCID:: PMC6237181

Abstract Article PDF–367K

Select item 57721624.

Progranulin: Functions and neurologic correlations

Ryan A. Townley, Bradley F. Boeve, Eduardo E. Benarroch

Neurology. 2018 Jan 16; 90(3): 118–125. doi: 10.1212/WNL.0000000000004840

Correction in:: Neurology. 2018 Jun 12; 90(24): 1127.

PMCID:: PMC5772162

Article PDF–629K

Select item 54775185.

Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations

Xiaolai Zhou, Lirong Sun, Oliver Bracko, Ji Whae Choi, Yan Jia, Alissa L. Nana, Owen Adam Brady, Jean C. Cruz Hernandez, Nozomi Nishimura, William W. Seeley, Fenghua Hu

Nat Commun. 2017; 8: 15277. Published online 2017 May 25. doi: 10.1038/ncomms15277

PMCID:: PMC5477518

Abstract Article PDF–8.6M

Select item 49237346.

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

Paola Caroppo, Marie-Odile Habert, Stanley Durrleman, Aurélie Funkiewiez, Vincent Perlbarg, Valérie Hahn, Hugo Bertin, Malo Gaubert, Alexandre Routier, Didier Hannequin, Vincent Deramecourt, Florence Pasquier, Sophie Rivaud-Pechoux, Martine Vercelletto, Geoffrey Edouart, Romain Valabregue, Pascal Lejeune, Mira Didic, Jean-Christophe Corvol, Habib Benali, Stephane Lehericy, Bruno Dubois, Olivier Colliot, Alexis Brice, Isabelle Le Ber, the Predict-PGRN study group

J Alzheimers Dis. 2015; 47(3): 751–759. Published online 2015 Aug 3. doi: 10.3233/JAD-150270

PMCID:: PMC4923734

Abstract Article PDF–436K

Select item 47319257.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 46486028.

Memantine for the treatment of frontotemporal dementia: a meta-analysis

Taro Kishi, Shinji Matsunaga, Nakao Iwata

Neuropsychiatr Dis Treat. 2015; 11: 2883–2885. Published online 2015 Nov 12. doi: 10.2147/NDT.S94430

PMCID:: PMC4648602

Abstract Article PDF–169K

Select item 45447539.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 448956210.

Stimulant Treatment of Frontotemporal Dementia in 8 Patients

Edward D. Huey, Charisse Garcia, Eric M. Wassermann, Michael C. Tierney, Jordan Grafman

J Clin Psychiatry. Author manuscript; available in PMC 2015 Jul 2.

Published in final edited form as: J Clin Psychiatry. 2008 Dec; 69(12): 1981–1982. doi: 10.4088/jcp.v69n1219a

PMCID:: PMC4489562

Article PDF–94K

Select item 414927611.

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

Yoshinori Tanaka, James K Chambers, Takashi Matsuwaki, Keitaro Yamanouchi, Masugi Nishihara

Acta Neuropathol Commun. 2014; 2: 78. Published online 2014 Jul 15. doi: 10.1186/s40478-014-0078-x

PMCID:: PMC4149276

Abstract Article PDF–3.5M

Select item 390562712.

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

Jonathan D Rohrer, Jonathan Beck, Vincent Plagnol, Elizabeth Gordon, Tammaryn Lashley, Tamas Revesz, John C Janssen, Nick C Fox, Jason D Warren, Martin N Rossor, Simon Mead, Jonathan M Schott

J Neurol Neurosurg Psychiatry. 2013 Dec; 84(12): 1411–1412. Published online 2013 Jul 31. doi: 10.1136/jnnp-2013-306116

PMCID:: PMC3905627

Article PDF–742K

Select item 380692413.

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers

Claudia Jacova, Ging-Yuek R. Hsiung, Itthipol Tawankanjanachot, Katie Dinelle, Siobhan McCormick, Marjorie Gonzalez, Hyunsoo Lee, Pheth Sengdy, Phoenix Bouchard-Kerr, Matthew Baker, Rosa Rademakers, Vesna Sossi, A. Jon Stoessl, Howard H. Feldman, Ian R. Mackenzie

Neurology. 2013 Oct 8; 81(15): 1322–1331. doi: 10.1212/WNL.0b013e3182a8237e

PMCID:: PMC3806924

Abstract Article PDF–432K

Select item 359005014.

Criteria for the diagnosis of corticobasal degeneration

Melissa J. Armstrong, Irene Litvan, Anthony E. Lang, Thomas H. Bak, Kailash P. Bhatia, Barbara Borroni, Adam L. Boxer, Dennis W. Dickson, Murray Grossman, Mark Hallett, Keith A. Josephs, Andrew Kertesz, Suzee E. Lee, Bruce L. Miller, Stephen G. Reich, David E. Riley, Eduardo Tolosa, Alexander I. Tröster, Marie Vidailhet, William J. Weiner

Neurology. 2013 Jan 29; 80(5): 496–503. doi: 10.1212/WNL.0b013e31827f0fd1

PMCID:: PMC3590050

Abstract Article PDF–292K

Select item 354540015.

Clinicopathologic differences among patients with behavioral variant frontotemporal dementia

Mario F. Mendez, Aditi Joshi, Kanida Tassniyom, Edmond Teng, Jill S. Shapira

Neurology. Author manuscript; available in PMC 2013 Jan 15.

Published in final edited form as: Neurology. 2007 Sep 11; 69(11): 1113–1121. Published online 2007 May 23. doi: 10.1212/01.wnl.0000267701.58488.69

PMCID:: PMC3545400

Abstract Article PDF–1.0M

Select item 346735716.

FDG-PET in Semantic Dementia after 6 Months of Memantine: an Open-Label Pilot Study

Tiffany W. Chow, David Fam, Ariel Graff-Guerrero, Nicolaas P. G. Verhoeff, David F. Tang-Wai, Mario Masellis, Sandra E. Black, Alan A. Wilson, Sylvain Houle, Bruce G. Pollock

Int J Geriatr Psychiatry. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Int J Geriatr Psychiatry. 2013 Mar; 28(3): 319–325. Published online 2012 Jun 4. doi: 10.1002/gps.3832

PMCID:: PMC3467357

Abstract Article PDF–428K

Select item 337027617.

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E. Mole, John F. Staropoli, Katherine B. Sims, Jada Lewis, Wen-Lang Lin, Dennis W. Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F. Berkovic

Am J Hum Genet. 2012 Jun 8; 90(6): 1102–1107. doi: 10.1016/j.ajhg.2012.04.021

PMCID:: PMC3370276

Abstract Article PDF–425K

Select item 328514318.

A harmonized classification system for FTLD-TDP pathology

Ian R. A. Mackenzie, Manuela Neumann, Atik Baborie, Deepak M. Sampathu, Daniel Du Plessis, Evelyn Jaros, Robert H. Perry, John Q. Trojanowski, David M. A. Mann, Virginia M. Y. Lee

Acta Neuropathol. Author manuscript; available in PMC 2012 Feb 23.

Published in final edited form as: Acta Neuropathol. 2011 Jul; 122(1): 111–113. Published online 2011 Jun 5. doi: 10.1007/s00401-011-0845-8

PMCID:: PMC3285143

Article PDF–29K

Select item 317053219.

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Katya Rascovsky, John R. Hodges, David Knopman, Mario F. Mendez, Joel H. Kramer, John Neuhaus, John C. van Swieten, Harro Seelaar, Elise G. P. Dopper, Chiadi U. Onyike, Argye E. Hillis, Keith A. Josephs, Bradley F. Boeve, Andrew Kertesz, William W. Seeley, Katherine P. Rankin, Julene K. Johnson, Maria-Luisa Gorno-Tempini, Howard Rosen, Caroline E. Prioleau-Latham, Albert Lee, Christopher M. Kipps, Patricia Lillo, Olivier Piguet, Jonathan D. Rohrer, Martin N. Rossor, Jason D. Warren, Nick C. Fox, Douglas Galasko, David P. Salmon, Sandra E. Black, Marsel Mesulam, Sandra Weintraub, Brad C. Dickerson, Janine Diehl-Schmid, Florence Pasquier, Vincent Deramecourt, Florence Lebert, Yolande Pijnenburg, Tiffany W. Chow, Facundo Manes, Jordan Grafman, Stefano F. Cappa, Morris Freedman, Murray Grossman, Bruce L. Miller

Brain. 2011 Sep; 134(9): 2456–2477. Published online 2011 Aug 2. doi: 10.1093/brain/awr179

PMCID:: PMC3170532

Abstract Article PDF–352K

Select item 316028020.

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

Alice S. Chen-Plotkin, Maria Martinez-Lage, Patrick M. A. Sleiman, William Hu, Robert Greene, Elisabeth McCarty Wood, Shaoxu Bing, Murray Grossman, Gerard D. Schellenberg, Kimmo J. Hatanpaa, Myron F. Weiner, Charles L. White, III, William S. Brooks, Glenda M. Halliday, Jillian J. Kril, Marla Gearing, Thomas G. Beach, Neill R. Graff-Radford, Dennis W. Dickson, Rosa Rademakers, Bradley F. Boeve, Stuart M. Pickering-Brown, Julie Snowden, John C. van Swieten, Peter Heutink, Harro Seelaar, Jill R. Murrell, Bernardino Ghetti, Salvatore Spina, Jordan Grafman, Jeffrey A. Kaye, Randall L. Woltjer, Marsel Mesulam, Eileen Bigio, Albert Lladó, Bruce L. Miller, Ainhoa Alzualde, Fermin Moreno, Jonathan D. Rohrer, Ian R. A. Mackenzie, Howard H. Feldman, Ronald L. Hamilton, Marc Cruts, Sebastiaan Engelborghs, Peter P. De Deyn, Christine Van Broeckhoven, Thomas D. Bird, Nigel J. Cairns, Allison Goate, Matthew P. Frosch, Peter F. Riederer, Nenad Bogdanovic, Virginia M. Y. Lee, John Q. Trojanowski, Vivianna M. Van Deerlin

Arch Neurol. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Arch Neurol. 2011 Apr; 68(4): 488–497. doi: 10.1001/archneurol.2011.53

PMCID:: PMC3160280

Abstract Article PDF–622K

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