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| A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population. Journal of Alzheimer's disease : JAD 2021 Aug . Rostalski Hannah, Korhonen Ville, Kuulasmaa Teemu, Solje Eino, Krüger Johanna, Gen Finn, Kaivola Karri, Eide Per Kristian, Lambert Jean-Charles, Julkunen Valtteri, Tienari Pentti J, Remes Anne M, Leinonen Ville, Hiltunen Mikko, Haapasalo Annakai |
| C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
| Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
| Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
| Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Nov 1-3. Kartanou Chrisoula, Karadima Georgia, Koutsis Georgios, Breza Marianthi, Papageorgiou Sokratis G, Paraskevas George P, Kapaki Elisabeth, Panas Mari |
| Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of aging 2016 Dec . Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharth |
| Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia. Neurology 2016 Aug . Rohrer Jonathan D, Woollacott Ione O C, Dick Katrina M, Brotherhood Emilie, Gordon Elizabeth, Fellows Alexander, Toombs Jamie, Druyeh Ronald, Cardoso M Jorge, Ourselin Sebastien, Nicholas Jennifer M, Norgren Niklas, Mead Simon, Andreasson Ulf, Blennow Kaj, Schott Jonathan M, Fox Nick C, Warren Jason D, Zetterberg Henr |
| Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. Neurobiology of aging 2016 May . Tang Min, Gu Xiaohua, Wei Jingya, Jiao Bin, Zhou Lin, Zhou Yafang, Weng Ling, Yan Xinxiang, Tang Beisha, Xu Jun, Shen |
| C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies. Neuro-degenerative diseases 2016 May 16 (5-6): 370-372. Geiger Joshua T, Arthur Karissa C, Dawson Ted M, Rosenthal Liana S, Pantelyat Alexander, Albert Marilyn, Hillis Argye E, Crain Barbara, Pletnikova Olga, Troncoso Juan C, Scholz Sonja |
| Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Mar 1-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
| Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta neuropathologica 2015 Oct 130 (4): 559-73. Gendron Tania F, van Blitterswijk Marka, Bieniek Kevin F, Daughrity Lillian M, Jiang Jie, Rush Beth K, Pedraza Otto, Lucas John A, Murray Melissa E, Desaro Pamela, Robertson Amelia, Overstreet Karen, Thomas Colleen S, Crook Julia E, Castanedes-Casey Monica, Rousseau Linda, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Boeve Bradley F, Graff-Radford Neill R, Rademakers Rosa, Lagier-Tourenne Clotilde, Edbauer Dieter, Cleveland Don W, Dickson Dennis W, Petrucelli Leonard, Boylan Kevin |
| Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia. Dementia and geriatric cognitive disorders 2015 Sep 40 (5-6): 358-365. Mandic-Stojmenovic Gorana, Stefanova Elka, Dobricic Valerija, Novakovic Ivana, Stojkovic Tanja, Jesic Aleksandar, Kostic Vladim |
| Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta neuropathologica 2015 Jul 130 (1): 77-92. Pottier Cyril, Bieniek Kevin F, Finch NiCole, van de Vorst Maartje, Baker Matt, Perkersen Ralph, Brown Patricia, Ravenscroft Thomas, van Blitterswijk Marka, Nicholson Alexandra M, DeTure Michael, Knopman David S, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Veltman Joris A, Gilissen Christian, Murray Melissa E, Dickson Dennis W, Rademakers Ro |
| Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology 2014 Nov 137 (Pt 11): 3047-60. Lee Suzee E, Khazenzon Anna M, Trujillo Andrew J, Guo Christine C, Yokoyama Jennifer S, Sha Sharon J, Takada Leonel T, Karydas Anna M, Block Nikolas R, Coppola Giovanni, Pribadi Mochtar, Geschwind Daniel H, Rademakers Rosa, Fong Jamie C, Weiner Michael W, Boxer Adam L, Kramer Joel H, Rosen Howard J, Miller Bruce L, Seeley William |
| Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 2014 Nov 83 (21): 1906-13. Theuns Jessie, Verstraeten Aline, Sleegers Kristel, Wauters Eline, Gijselinck Ilse, Smolders Stefanie, Crosiers David, Corsmit Ellen, Elinck Ellen, Sharma Manu, Krüger Rejko, Lesage Suzanne, Brice Alexis, Chung Sun Ju, Kim Mi-Jung, Kim Young Jin, Ross Owen A, Wszolek Zbigniew K, Rogaeva Ekaterina, Xi Zhengrui, Lang Anthony E, Klein Christine, Weissbach Anne, Mellick George D, Silburn Peter A, Hadjigeorgiou Georgios M, Dardiotis Efthimios, Hattori Nobutaka, Ogaki Kotaro, Tan Eng-King, Zhao Yi, Aasly Jan, Valente Enza Maria, Petrucci Simona, Annesi Grazia, Quattrone Aldo, Ferrarese Carlo, Brighina Laura, Deutschländer Angela, Puschmann Andreas, Nilsson Christer, Garraux Gaëtan, LeDoux Mark S, Pfeiffer Ronald F, Boczarska-Jedynak Magdalena, Opala Grzegorz, Maraganore Demetrius M, Engelborghs Sebastiaan, De Deyn Peter Paul, Cras Patrick, Cruts Marc, Van Broeckhoven Christine, |
| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
Frontotemporal dementia and its subtypes: a genome-wide association study.
The Lancet. Neurology 2014 Jul 13 (7): 686-99. Ferrari Raffaele, Hernandez Dena G, Nalls Michael A, Rohrer Jonathan D, Ramasamy Adaikalavan, Kwok John B J, Dobson-Stone Carol, Brooks William S, Schofield Peter R, Halliday Glenda M, Hodges John R, Piguet Olivier, Bartley Lauren, Thompson Elizabeth, Haan Eric, Hernández Isabel, Ruiz Agustín, Boada Mercè, Borroni Barbara, Padovani Alessandro, Cruchaga Carlos, Cairns Nigel J, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Forloni Gianluigi, Galimberti Daniela, Fenoglio Chiara, Serpente Maria, Scarpini Elio, Clarimón Jordi, Lleó Alberto, Blesa Rafael, Waldö Maria Landqvist, Nilsson Karin, Nilsson Christer, Mackenzie Ian R A, Hsiung Ging-Yuek R, Mann David M A, Grafman Jordan, Morris Christopher M, Attems Johannes, Griffiths Timothy D, McKeith Ian G, Thomas Alan J, Pietrini P, Huey Edward D, Wassermann Eric M, Baborie Atik, Jaros Evelyn, Tierney Michael C, Pastor Pau, Razquin Cristina, Ortega-Cubero Sara, Alonso Elena, Perneczky Robert, Diehl-Schmid Janine, Alexopoulos Panagiotis, Kurz Alexander, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Rogaeva Ekaterina, St George-Hyslop Peter, Rossi Giacomina, Tagliavini Fabrizio, Giaccone Giorgio, Rowe James B, Schlachetzki Johannes C M, Uphill James, Collinge John, Mead Simon, Danek Adrian, Van Deerlin Vivianna M, Grossman Murray, Trojanowski John Q, van der Zee Julie, Deschamps William, Van Langenhove Tim, Cruts Marc, Van Broeckhoven Christine, Cappa Stefano F, Le Ber Isabelle, Hannequin Didier, Golfier Véronique, Vercelletto Martine, Brice Alexis, Nacmias Benedetta, Sorbi Sandro, Bagnoli Silvia, Piaceri Irene, Nielsen Jørgen E, Hjermind Lena E, Riemenschneider Matthias, Mayhaus Manuel, Ibach Bernd, Gasparoni Gilles, Pichler Sabrina, Gu Wei, Rossor Martin N, Fox Nick C, Warren Jason D, Spillantini Maria Grazia, Morris Huw R, Rizzu Patrizia, Heutink Peter, Snowden Julie S, Rollinson Sara, Richardson Anna, Gerhard Alexander, Bruni Amalia C, Maletta Raffaele, Frangipane Francesca, Cupidi Chiara, Bernardi Livia, Anfossi Maria, Gallo Maura, Conidi Maria Elena, Smirne Nicoletta, Rademakers Rosa, Baker Matt, Dickson Dennis W, Graff-Radford Neill R, Petersen Ronald C, Knopman David, Josephs Keith A, Boeve Bradley F, Parisi Joseph E, Seeley William W, Miller Bruce L, Karydas Anna M, Rosen Howard, van Swieten John C, Dopper Elise G P, Seelaar Harro, Pijnenburg Yolande A L, Scheltens Philip, Logroscino Giancarlo, Capozzo Rosa, Novelli Valeria, Puca Annibale A, Franceschi Massimo, Postiglione Alfredo, Milan Graziella, Sorrentino Paolo, Kristiansen Mark, Chiang Huei-Hsin, Graff Caroline, Pasquier Florence, Rollin Adeline, Deramecourt Vincent, Lebert Florence, Kapogiannis Dimitrios, Ferrucci Luigi, Pickering-Brown Stuart, Singleton Andrew B, Hardy John, Momeni Parast |
| TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta neuropathologica 2014 Mar 127 (3): 397-406. van Blitterswijk Marka, Mullen Bianca, Nicholson Alexandra M, Bieniek Kevin F, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Finch Nicole A, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. Spinal cord 2014 Jan 52 (1): 77-9. Nielsen T T, Svenstrup K, Duno M, Nielsen J |
| Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients. Neurobiology of aging 2014 Jan 35 (1): 267.e1-7. Alavi Afagh, Nafissi Shahriar, Rohani Mohammad, Shahidi Gholamali, Zamani Babak, Shamshiri Hosein, Safari Iman, Elahi Ela |
| Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration 2014 9 38. van Blitterswijk Marka, Mullen Bianca, Wojtas Aleksandra, Heckman Michael G, Diehl Nancy N, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. The Lancet. Neurology 2013 Oct 12 (10): 978-88. van Blitterswijk Marka, DeJesus-Hernandez Mariely, Niemantsverdriet Ellis, Murray Melissa E, Heckman Michael G, Diehl Nancy N, Brown Patricia H, Baker Matthew C, Finch NiCole A, Bauer Peter O, Serrano Geidy, Beach Thomas G, Josephs Keith A, Knopman David S, Petersen Ronald C, Boeve Bradley F, Graff-Radford Neill R, Boylan Kevin B, Petrucelli Leonard, Dickson Dennis W, Rademakers Ro |
| Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta neuropathologica 2013 Oct 126 (4): 545-54. Murray Melissa E, Bieniek Kevin F, Banks Greenberg M, DeJesus-Hernandez Mariely, Rutherford Nicola J, van Blitterswijk Marka, Niemantsverdriet Ellis, Ash Peter E, Gendron Tania F, Kouri Naomi, Baker Matt, Goodman Ira J, Petrucelli Leonard, Rademakers Rosa, Dickson Dennis |
| Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biological psychiatry 2013 Sep 74 (5): 384-91. Galimberti Daniela, Fenoglio Chiara, Serpente Maria, Villa Chiara, Bonsi Rossana, Arighi Andrea, Fumagalli Giorgio G, Del Bo Roberto, Bruni Amalia C, Anfossi Maria, Clodomiro Alessandra, Cupidi Chiara, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Bessi Valentina, Marcone Alessandra, Cerami Chiara, Cappa Stefano F, Filippi Massimo, Agosta Federica, Magnani Giuseppe, Comi Giancarlo, Franceschi Massimo, Rainero Innocenzo, Giordana Maria Teresa, Rubino Elisa, Ferrero Patrizia, Rogaeva Ekaterina, Xi Zhengrui, Confaloni Annamaria, Piscopo Paola, Bruno Giuseppe, Talarico Giuseppina, Cagnin Annachiara, Clerici Francesca, Dell'Osso Bernardo, Comi Giacomo P, Altamura A Carlo, Mariani Claudio, Scarpini El |
| Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 751-64. Cooper-Knock Johnathan, Hewitt Christopher, Highley J Robin, Brockington Alice, Milano Antonio, Man Somai, Martindale Joanne, Hartley Judith, Walsh Theresa, Gelsthorpe Catherine, Baxter Lynne, Forster Gillian, Fox Melanie, Bury Joanna, Mok Kin, McDermott Christopher J, Traynor Bryan J, Kirby Janine, Wharton Stephen B, Ince Paul G, Hardy John, Shaw Pamela |
| Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 693-708. Snowden Julie S, Rollinson Sara, Thompson Jennifer C, Harris Jennifer M, Stopford Cheryl L, Richardson Anna M T, Jones Matthew, Gerhard Alex, Davidson Yvonne S, Robinson Andrew, Gibbons Linda, Hu Quan, DuPlessis Daniel, Neary David, Mann David M A, Pickering-Brown Stuart |
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- Page last updated:Aug 16, 2022
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