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| Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology 2019 Dec 18 (12): 1103-1111. van der Ende Emma L, Meeter Lieke H, Poos Jackie M, Panman Jessica L, Jiskoot Lize C, Dopper Elise G P, Papma Janne M, de Jong Frank Jan, Verberk Inge M W, Teunissen Charlotte, Rizopoulos Dimitris, Heller Carolin, Convery Rhian S, Moore Katrina M, Bocchetta Martina, Neason Mollie, Cash David M, Borroni Barbara, Galimberti Daniela, Sanchez-Valle Raquel, Laforce Robert, Moreno Fermin, Synofzik Matthis, Graff Caroline, Masellis Mario, Carmela Tartaglia Maria, Rowe James B, Vandenberghe Rik, Finger Elizabeth, Tagliavini Fabrizio, de Mendonça Alexandre, Santana Isabel, Butler Chris, Ducharme Simon, Gerhard Alex, Danek Adrian, Levin Johannes, Otto Markus, Frisoni Giovanni B, Cappa Stefano, Pijnenburg Yolande A L, Rohrer Jonathan D, van Swieten John C, |
| Prevalence of C9ORF72 Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus. Dementia and geriatric cognitive disorders 2019 Mar 47 (1-2): 91-103. Korhonen Ville E, Remes Anne M, Helisalmi Seppo, Rauramaa Tuomas, Sutela Anna, Vanninen Ritva, Suhonen Noora-Maria, Haapasalo Annakaisa, Hiltunen Mikko, Jääskeläinen Juha E, Soininen Hilkka, Koivisto Anne M, Leinonen Vil |
| Thalamic atrophy in frontotemporal dementia - Not just a C9orf72 problem. NeuroImage. Clinical 2018 18 675-681. Bocchetta Martina, Gordon Elizabeth, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan |
| Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 May 1-13. Omer Taha, Finegan Eoin, Hutchinson Siobhan, Doherty Mark, Vajda Alice, McLaughlin Russell L, Pender Niall, Hardiman Orla, Bede Pet |
| Neurofilament light chain: a biomarker for genetic frontotemporal dementia. Annals of clinical and translational neurology 2016 Aug 3 (8): 623-36. Meeter Lieke H, Dopper Elise G, Jiskoot Lize C, Sanchez-Valle Raquel, Graff Caroline, Benussi Luisa, Ghidoni Roberta, Pijnenburg Yolande A, Borroni Barbara, Galimberti Daniela, Laforce Robert Jr, Masellis Mario, Vandenberghe Rik, Ber Isabelle Le, Otto Markus, van Minkelen Rick, Papma Janne M, Rombouts Serge A, Balasa Mircea, Öijerstedt Linn, Jelic Vesna, Dick Katrina M, Cash David M, Harding Sophie R, Jorge Cardoso M, Ourselin Sebastien, Rossor Martin N, Padovani Alessandro, Scarpini Elio, Fenoglio Chiara, Tartaglia Maria C, Lamari Foudil, Barro Christian, Kuhle Jens, Rohrer Jonathan D, Teunissen Charlotte E, van Swieten John |
| 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 |
| C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy. Journal of neural transmission (Vienna, Austria : 1996) 2016 Jul . Chen Xueping, Chen Yongping, Wei Qianqian, Ou Ruwei, Cao Bei, Zhao Bi, Shang Hui-Fa |
| Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a journal of neurology 2015 Dec . Van Mossevelde Sara, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Sieben Anne, Van Langenhove Tim, De Bleecker Jan, Baets Jonathan, Vandenbulcke Mathieu, Van Laere Koen, Ceyssens Sarah, Van den Broeck Marleen, Peeters Karin, Mattheijssens Maria, Cras Patrick, Vandenberghe Rik, De Jonghe Peter, Martin Jean-Jacques, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine, |
| Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants. Neurologic clinics 2015 Nov 33 (4): 855-76. Saberi Shahram, Stauffer Jennifer E, Schulte Derek J, Ravits Jo |
| Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Oct 1-9. Snowden Julie S, Adams Jennifer, Harris Jennifer, Thompson Jennifer C, Rollinson Sara, Richardson Anna, Jones Matthew, Neary David, Mann David M, Pickering-Brown Stua |
| Pain and temperature processing in dementia: a clinical and neuroanatomical analysis. Brain : a journal of neurology 2015 Oct . Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Slattery Catherine F, Paterson Ross W, Rohrer Jonathan D, Schott Jonathan M, Rossor Martin N, Warren Jason |
| Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European journal of neurology : the official journal of the European Federation of Neurological Societies 2015 May 22 (5): 745-52. Whitwell J L, Boeve B F, Weigand S D, Senjem M L, Gunter J L, Baker M C, DeJesus-Hernandez M, Knopman D S, Wszolek Z K, Petersen R C, Rademakers R, Jack C R, Josephs K |
| Analysis of the C9orf72 gene in spinal muscular atrophy patients. Amyotrophic lateral sclerosis & frontotemporal degeneration 2014 Dec 15 (7-8): 563-8. Alías Laura, Bernal Sara, Barceló Maria J, Martínez-Hernández Rebeca, Martínez Elisabeth, Baiget Montserrat, Tizzano Eduardo |
| C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome. Journal of the neurological sciences 2014 Dec 347 (1-2): 322-4. Hsiao Cheng-Tsung, Tsai Pei-Chien, Liao Yi-Chu, Lee Yi-Chung, Soong Bing-W |
| 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 |
| Profiles of white matter tract pathology in frontotemporal dementia. Human brain mapping 2014 Aug 35 (8): 4163-79. Mahoney Colin J, Ridgway Gerard R, Malone Ian B, Downey Laura E, Beck Jonathan, Kinnunen Kirsi M, Schmitz Nicole, Golden Hannah L, Rohrer Jonathan D, Schott Jonathan M, Rossor Martin N, Ourselin Sebastien, Mead Simon, Fox Nick C, Warren Jason |
| Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study. JAMA neurology 2014 May 71 (5): 553-61. Van Laere Koen, Vanhee Annelies, Verschueren Jolien, De Coster Liesbeth, Driesen An, Dupont Patrick, Robberecht Wim, Van Damme Phil |
| Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. JAMA neurology 2014 Mar 71 (3): 331-9. Devenney Emma, Hornberger Michael, Irish Muireann, Mioshi Eneida, Burrell James, Tan Rachel, Kiernan Matthew C, Hodges John |
| C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a journal of neurology 2013 Feb 136 (Pt 2): 385-91. Lesage Suzanne, Le Ber Isabelle, Condroyer Christel, Broussolle Emmanuel, Gabelle Audrey, Thobois Stéphane, Pasquier Florence, Mondon Karl, Dion Patrick A, Rochefort Daniel, Rouleau Guy A, Dürr Alexandra, Brice Alexis, |
| Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2013 Feb 84 (2): 163-9. Irwin David J, McMillan Corey T, Brettschneider Johannes, Libon David J, Powers John, Rascovsky Katya, Toledo Jon B, Boller Ashley, Bekisz Jonathan, Chandrasekaran Keerthi, Wood Elisabeth McCarty, Shaw Leslie M, Woo John H, Cook Philip A, Wolk David A, Arnold Steven E, Van Deerlin Vivianna M, McCluskey Leo F, Elman Lauren, Lee Virginia M-Y, Trojanowski John Q, Grossman Murr |
| Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012 Jul . van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH |
| Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 794-806. Whitwell Jennifer L, Weigand Stephen D, Boeve Bradley F, Senjem Matthew L, Gunter Jeffrey L, DeJesus-Hernandez Mariely, Rutherford Nicola J, Baker Matthew, Knopman David S, Wszolek Zbigniew K, Parisi Joseph E, Dickson Dennis W, Petersen Ronald C, Rademakers Rosa, Jack Clifford R, Josephs Keith |
| The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 723-35. Simón-Sánchez Javier, Dopper Elise G P, Cohn-Hokke Petra E, Hukema Renate K, Nicolaou Nayia, Seelaar Harro, de Graaf J Roos A, de Koning Inge, van Schoor Natasja M, Deeg Dorly J H, Smits Marion, Raaphorst Joost, van den Berg Leonard H, Schelhaas Helenius J, De Die-Smulders Christine E M, Majoor-Krakauer Danielle, Rozemuller Annemieke J M, Willemsen Rob, Pijnenburg Yolande A L, Heutink Peter, van Swieten John |
| Automatic MRI Quantifying Methods in Behavioral-Variant Frontotemporal Dementia Diagnosis. Dementia and geriatric cognitive disorders extra 0 8 (1): 51-59. Cajanus Antti, Hall Anette, Koikkalainen Juha, Solje Eino, Tolonen Antti, Urhemaa Timo, Liu Yawu, Haanpää Ramona M, Hartikainen Päivi, Helisalmi Seppo, Korhonen Ville, Rueckert Daniel, Hasselbalch Steen, Waldemar Gunhild, Mecocci Patrizia, Vanninen Ritva, van Gils Mark, Soininen Hilkka, Lötjönen Jyrki, Remes Anne |
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- Page last updated:Jan 19, 2022
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