PMC Links for Books (Select 3372302) - PMC

Katrina M Moore, Jennifer Nicholas, Murray Grossman, Corey T McMillan, David J Irwin, Lauren Massimo, Vivianna M Van Deerlin, Jason D Warren, Nick C Fox, Martin N Rossor, Simon Mead, Martina Bocchetta, Bradley F Boeve, David S Knopman, Neill R Graff-Radford, Leah K Forsberg, Rosa Rademakers, Zbigniew K Wszolek, John C van Swieten, Lize C Jiskoot, Lieke H Meeter, Elise GP Dopper, Janne M Papma, Julie S Snowden, Jennifer Saxon, Matthew Jones, Stuart Pickering-Brown, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Paola Caroppo, Roberta Ghidoni, Michela Pievani, Luisa Benussi, Giuliano Binetti, Bradford C Dickerson, Diane Lucente, Samantha Krivensky, Caroline Graff, Linn Öijerstedt, Marie Fallström, Håkan Thonberg, Nupur Ghoshal, John C Morris, Barbara Borroni, Alberto Benussi, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Giorgio G Fumagalli, Ian R Mackenzie, Ging-Yuek R Hsiung, Pheth Sengdy, Adam L Boxer, Howie Rosen, Joanne B Taylor, Matthis Synofzik, Carlo Wilke, Patricia Sulzer, John R Hodges, Glenda Halliday, John Kwok, Raquel Sanchez-Valle, Albert Lladó, Sergi Borrego-Ecija, Isabel Santana, Maria Rosário Almeida, Miguel Tábuas-Pereira, Fermin Moreno, Myriam Barandiaran, Begoña Indakoetxea, Johannes Levin, Adrian Danek, James B Rowe, Thomas E Cope, Markus Otto, Sarah Anderl-Straub, Alexandre de Mendonça, Carolina Maruta, Mario Masellis, Sandra E Black, Philippe Couratier, Geraldine Lautrette, Edward D Huey, Sandro Sorbi, Benedetta Nacmias, Robert Laforce, Jr, Marie-Pier L Tremblay, Rik Vandenberghe, Philip Van Damme, Emily J Rogalski, Sandra Weintraub, Alexander Gerhard, Chiadi U Onyike, Simon Ducharme, Sokratis G Papageorgiou, Adeline Su Lyn, Amy Brodtmann, Elizabeth Finger, Rita Guerreiro, Jose Bras, Jonathan D Rohrer

Lancet Neurol. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Lancet Neurol. 2020 Feb; 19(2): 145–156. Published online 2019 Dec 3. doi: 10.1016/S1474-4422(19)30394-1

PMCID:: PMC7007771

Article PDF–1.2M

Select item 69933994.

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk

Mol Neurodegener. 2020; 15: 7. Published online 2020 Jan 30. doi: 10.1186/s13024-020-0359-8

PMCID:: PMC6993399

Article PDF–1.9M

Select item 69464655.

Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers

Alexander J. Cammack, Nazem Atassi, Theodore Hyman, Leonard H. van den Berg, Matthew Harms, Robert H. Baloh, Robert H. Brown, Michael A. van Es, Jan H. Veldink, Balint S. de Vries, Jeffrey D. Rothstein, Caroline Drain, Jennifer Jockel-Balsarotti, Amber Malcolm, Sonia Boodram, Amber Salter, Nicholas Wightman, Hong Yu, Alexander V. Sherman, Thomas J. Esparza, Diane McKenna-Yasek, Margaret A. Owegi, Catherine Douthwright, Alzheimer's Disease Neuroimaging Initiative, Alexander McCampbell, Toby Ferguson, Carlos Cruchaga, Merit Cudkowicz, Timothy M. Miller

Neurology. 2019 Oct 22; 93(17): e1605–e1617. doi: 10.1212/WNL.0000000000008359

PMCID:: PMC6946465

Article PDF–964K

Select item 68022876.

C9orf72 Intermediate Repeats are Associated with Corticobasal Degeneration, Increased C9orf72 Expression and Disruption of Autophagy

Christopher P Cali, Maribel Patino, Yee Kit Tai, Wan Yun Ho, Catriona A McLean, Christopher M Morris, William W Seeley, Bruce L Miller, Carles Gaig, Jean Paul G Vonsattel, Charles L White, III, Sigrun Roeber, Hans Kretzschmar, Juan C Troncoso, Claire Troakes, Marla Gearing, Bernardino Ghetti, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowski, Kin Y Mok, Helen Ling, Dennis W Dickson, Gerard D Schellenberg, Shuo-Chien Ling, Edward B Lee

Acta Neuropathol. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Acta Neuropathol. 2019 Nov; 138(5): 795–811. Published online 2019 Jul 20. doi: 10.1007/s00401-019-02045-5

PMCID:: PMC6802287

Article PDF–1.9M

Select item 66471177.

An update on genetic frontotemporal dementia

Caroline V. Greaves, Jonathan D. Rohrer

J Neurol. 2019; 266(8): 2075–2086. Published online 2019 May 22. doi: 10.1007/s00415-019-09363-4

PMCID:: PMC6647117

Article PDF–701K

Select item 65564088.

C9orf72 repeat expansions in South Africans with Amyotrophic Lateral Sclerosis

Melissa Nel, Gloudi M Agenbag, Franclo Henning, Helen M Cross, Alina Esterhuizen, Jeannine M Heckmann

J Neurol Sci. Author manuscript; available in PMC 2020 Jun 15.

Published in final edited form as: J Neurol Sci. 2019 Jun 15; 401: 51–54. Published online 2019 Apr 17. doi: 10.1016/j.jns.2019.04.026

PMCID:: PMC6556408

Article PDF–349K

Select item 62773629.

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature

Thomas Bourinaris, Henry Houlden

Mov Disord Clin Pract. 2018 Nov-Dec; 5(6): 575–585. Published online 2018 Nov 8. doi: 10.1002/mdc3.12677

PMCID:: PMC6277362

Article PDF–258K

Select item 618693210.

Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

Mikel Vicente‐Pascual, Marcello Rossi, Josep Gámez, Albert Lladó, Josep Valls, Oriol Grau‐Rivera, Rainiero Ávila Polo, Franc Llorens, Inga Zerr, Isidre Ferrer, Carlos Nos, Piero Parchi, Raquel Sánchez‐Valle, Ellen Gelpí

Ann Clin Transl Neurol. 2018 Oct; 5(10): 1297–1302. Published online 2018 Sep 21. doi: 10.1002/acn3.632

PMCID:: PMC6186932

Article PDF–523K

Select item 590055011.

Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort

Ellis Niemantsverdriet, Bart F.E. Feyen, Nathalie Le Bastard, Jean-Jacques Martin, Johan Goeman, Peter Paul De Deyn, Maria Bjerke, Sebastiaan Engelborghs

J Alzheimers Dis. 2018; 63(1): 373–381. Prepublished online 2018 Mar 29. Published online 2018 Apr 10. doi: 10.3233/JAD-170927

PMCID:: PMC5900550

Article PDF–82K

Select item 588016212.

The Genetics of C9orf72 Expansions

Ilse Gijselinck, Marc Cruts, Christine Van Broeckhoven

Cold Spring Harb Perspect Med. 2018 Apr; 8(4): a026757. doi: 10.1101/cshperspect.a026757

PMCID:: PMC5880162

Article PDF–705K

Select item 575989313.

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

David M. Cash, Martina Bocchetta, David L. Thomas, Katrina M. Dick, John C. van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce, Jr., Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Martin N. Rossor, Sebastien Ourselin, Jonathan D. Rohrer, Genetic FTD Initiative, GENFI

Neurobiol Aging. 2018 Feb; 62: 191–196. doi: 10.1016/j.neurobiolaging.2017.10.008

PMCID:: PMC5759893

Article

Select item 573081814.

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics

Mathieu Barbier, Agnès Camuzat, Marion Houot, Fabienne Clot, Paola Caroppo, Clémence Fournier, Daisy Rinaldi, Florence Pasquier, Didier Hannequin, Jérémie Pariente, Kathy Larcher, The French Clinical and Genetic Research Network on FTD/FTD-ALS, Predict-PGRN & PrevDemAls Study Groups, Alexis Brice, Emmanuelle Génin, Audrey Sabbagh, Isabelle Le Ber

Neurol Genet. 2017 Dec; 3(6): e203. Published online 2017 Dec 13. doi: 10.1212/NXG.0000000000000203

PMCID:: PMC5730818

Article PDF–200K

Select item 572817215.

Rethinking Unconventional Translation In Neurodegeneration

Fen-Biao Gao, Joel D. Richter, Don W. Cleveland

Cell. Author manuscript; available in PMC 2018 Nov 16.

Published in final edited form as: Cell. 2017 Nov 16; 171(5): 994–1000. doi: 10.1016/j.cell.2017.10.042

PMCID:: PMC5728172

Article PDF–532K

Select item 543703316.

Natalie A. Murphy, Karissa C. Arthur, Pentti J. Tienari, Henry Houlden, Adriano Chiò, Bryan J. Traynor

Sci Rep. 2017; 7: 2116. Published online 2017 May 18. doi: 10.1038/s41598-017-02364-1

PMCID:: PMC5437033

Article PDF–1.8M

Select item 496045117.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

I Gijselinck, S Van Mossevelde, J van der Zee, A Sieben, S Engelborghs, J De Bleecker, A Ivanoiu, O Deryck, D Edbauer, M Zhang, B Heeman, V Bäumer, M Van den Broeck, M Mattheijssens, K Peeters, E Rogaeva, P De Jonghe, P Cras, J-J Martin, P P de Deyn, M Cruts, C Van Broeckhoven

Mol Psychiatry. 2016 Aug; 21(8): 1112–1124. Published online 2015 Oct 20. doi: 10.1038/mp.2015.159

PMCID:: PMC4960451

Article PDF–716K

Select item 454475318.

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

Article PDF–960K

Select item 432182919.

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

Lucia V. Schottlaender, James M. Polke, Helen Ling, Nicola D. MacDoanld, Arianna Tucci, Tina Nanji, Alan Pittman, Rohan de Silva, Janice L. Holton, Tamas Revesz, Mary G. Sweeney, Andy B. Singleton, Andrew J. Lees, Kailash P. Bhatia, Henry Houlden

Neurobiol Aging. 2015 Feb; 36(2): 1221.e1–1221.e6. doi: 10.1016/j.neurobiolaging.2014.08.024

Correction in:: Neurobiol Aging. 2015 Apr; 36(4): 1768.

PMCID:: PMC4321829

Article

Select item 424845620.

Global investigation and meta-analysis of the C9orf72 (G₄C₂)_n repeat in Parkinson disease

Jessie Theuns, Aline Verstraeten, Kristel Sleegers, Eline Wauters, Ilse Gijselinck, Stefanie Smolders, David Crosiers, Ellen Corsmit, Ellen Elinck, Manu Sharma, Rejko Krüger, Suzanne Lesage, Alexis Brice, Sun Ju Chung, Mi-Jung Kim, Young Jin Kim, Owen A. Ross, Zbigniew K. Wszolek, Ekaterina Rogaeva, Zhengrui Xi, Anthony E. Lang, Christine Klein, Anne Weissbach, George D. Mellick, Peter A. Silburn, Georgios M. Hadjigeorgiou, Efthimios Dardiotis, Nobutaka Hattori, Kotaro Ogaki, Eng-King Tan, Yi Zhao, Jan Aasly, Enza Maria Valente, Simona Petrucci, Grazia Annesi, Aldo Quattrone, Carlo Ferrarese, Laura Brighina, Angela Deutschländer, Andreas Puschmann, Christer Nilsson, Gaëtan Garraux, Mark S. LeDoux, Ronald F. Pfeiffer, Magdalena Boczarska-Jedynak, Grzegorz Opala, Demetrius M. Maraganore, Sebastiaan Engelborghs, Peter Paul De Deyn, Patrick Cras, Marc Cruts, Christine Van Broeckhoven

Neurology. 2014 Nov 18; 83(21): 1906–1913. doi: 10.1212/WNL.0000000000001012

PMCID:: PMC4248456

Article PDF–421K

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