HuGE Literature Finder
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Records 1-100
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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 |
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No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis.
Multiple sclerosis and related disorders 2018 Aug 25 192-195. Tiloca Cinzia, Sorosina Melissa, Esposito Federica, Peroni Silvia, Colombrita Claudia, Ticozzi Nicola, Ratti Antonia, Boneschi Filippo Martinelli, Silani Vincen |
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Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.
JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
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Clinical exome sequencing in dementias: a preliminary study.
Psychiatria Danubina 2018 Jun 30 (2): 216-219. Zalar Bojan, Maver Aleš, Kovanda Ana, Peterlin Ana, Peterlin Bor |
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Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.
Neurobiology of aging 2018 Apr . Ng Adeline Sl, Tan Yi Jayne, Yi Zhao, Tandiono Moses, Chew Elaine, Dominguez Jacqueline, Macas Mabel, Ng Ebonne, Hameed Shahul, Ting Simon, Tan Eng King, Foo Jia Nee, Kandiah Nagaendr |
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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 |
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Thalamic atrophy in frontotemporal dementia - Not just a
NeuroImage. Clinical 2018 18 675-681. Bocchetta Martina, Gordon Elizabeth, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan |
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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 |
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Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.
Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).
Neurobiology of aging 2017 Jul . Rostgaard Nina, Roos Peter, Budtz-Jørgensen Esben, Johannsen Peter, Waldemar Gunhild, Nørremølle Anne, Lindquist Suzanne G, Gydesen Susanne, Brown Jeremy M, Collinge John, Isaacs Adrian M, , Nielsen Troels T, Nielsen Jørgen |
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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 |
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Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia.
Current Alzheimer research 2017 Apr . Che Xiang-Qian, Zhao Qian-Hua, Huang Yue, Li Xia, Ren Ru-Jing, Chen Sheng-Di, Wang Gang, Guo Qi-H |
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Predicting Development of Amyotrophic Lateral Sclerosis in Frontotemporal Dementia.
Journal of Alzheimer's disease : JAD 2017 Apr . Van Langenhove Tim, Piguet Olivier, Burrell James R, Leyton Cristian, Foxe David, Abela Melissa, Bartley Lauren, Kim Woojin S, Jary Eve, Huang Yue, Dobson-Stone Carol, Kwok John B, Halliday Glenda M, Hodges John |
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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome research 2016 Dec . Keogh Michael J, Wei Wei, Wilson Ian, Coxhead Jon, Ryan Sarah, Rollinson Sara, Griffin Helen, Kurzawa-Akanbi Marzena, Santibanez-Koref Mauro, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Al Sarraj Safa, Morris Chris M, Ansorge Olaf, Pickering-Brown Stuart, Ironside James W, Chinnery Patrick |
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Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis.
Neurobiology of aging 2016 Aug . Liu Fang, Liu Qing, Lu Chao Xia, Cui Bo, Guo Xia Nan, Wang Rong Rong, Liu Ming Sheng, Li Xiao Guang, Cui Li-Ying, Zhang X |
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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 |
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No common founder for C9orf72 expansion mutation in Sweden.
Journal of human genetics 2016 Aug . Chiang Huei-Hsin, Forsell Charlotte, Lindström Anna-Karin, Lilius Lena, Thonberg Håkan, Nennesmo Inger, Graff Caroli |
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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 |
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The role of the FTD-ALS associated C9orf72 expansion in suicide victims.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Jul 1-4. Solje Eino, Riipinen Pirkko, Helisalmi Seppo, Särkioja Terttu, Laitinen Marjo, Hiltunen Mikko, Hakko Helinä, Remes Anne |
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Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.
Neurology. Genetics 2016 Jun 2 (3): e71. He Fang, Jones Julie M, Figueroa-Romero Claudia, Zhang Dapeng, Feldman Eva L, Goutman Stephen A, Meisler Miriam H, Callaghan Brian C, Todd Peter |
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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 |
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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 |
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Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.
Neurobiology of aging 2016 Feb . Itzcovich Tatiana, Xi Zhengrui, Martinetto Horacio, Chrem-Méndez Patricio, Russo María Julieta, de Ambrosi Bruno, Uchitel Osvaldo D, Nogués Martín, Silva Emanuel, Rojas Galeno, Bagnatti Pablo, Amengual Alejandra, Campos Jorge, Rogaeva Ekaterina, St George-Hyslop Peter, Allegri Ricardo, Sevlever Gustavo, Surace Ezequiel |
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C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.
Journal of the neurological sciences 2016 Feb 361 181-3. He Miao, Yan Wei-Qian, Zeng Sheng, Liu Zhen, Zhou Yao, Zeng Xian-Feng, Zeng Jun-Sheng, Jiang Hong, Shen Lu, Tang Bei-Sha, Wang Jun-Li |
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The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966.
Psychiatric genetics 2016 Feb . Solje Eino, Miettunen Jouko, Marttila Riikka, Helisalmi Seppo, Laitinen Marjo, Koivumaa-Honkanen Heli, Isohanni Matti, Hiltunen Mikko, Jääskeläinen Erika, Remes Anne |
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The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis.
JAMA neurology 2016 Feb . Chiò Adriano, Brunetti Maura, Barberis Marco, Iazzolino Barbara, Montuschi Anna, Ilardi Antonio, Cammarosano Stefania, Canosa Antonio, Moglia Cristina, Calvo Andr |
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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
PloS one 2016 11 (9): e0162592. Guven Gamze, Lohmann Ebba, Bras Jose, Gibbs J Raphael, Gurvit Hakan, Bilgic Basar, Hanagasi Hasmet, Rizzu Patrizia, Heutink Peter, Emre Murat, Erginel-Unaltuna Nihan, Just Walter, Hardy John, Singleton Andrew, Guerreiro Ri |
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C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
Psychiatry research 2015 Dec . Watson Annie, Pribadi Mochtar, Chowdari Kodavali, Clifton Sue, Joel Wood , Miller Bruce L, Coppola Giovanni, Nimgaonkar Vishwaj |
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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, |
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Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 2015 Dec . Chen Yongping, Lin Ziqiang, Chen Xueping, Cao Bei, Wei Qianqian, Ou Ruwei, Zhao Bi, Song Wei, Wu Ying, Shang Hui-Fa |
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The Language Profile of Behavioral Variant Frontotemporal Dementia.
Journal of Alzheimer's disease : JAD 2015 Dec . Hardy Chris J D, Buckley Aisling H, Downey Laura E, Lehmann Manja, Zimmerer Vitor C, Varley Rosemary A, Crutch Sebastian J, Rohrer Jonathan D, Warrington Elizabeth K, Warren Jason |
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GBA-associated parkinsonism and dementia: beyond ?-synucleinopathies?
European journal of neurology : the official journal of the European Federation of Neurological Societies 2015 Nov . Pilotto A, Schulte C, Hauser A K, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg |
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TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Neurobiology of aging 2015 Nov 36 (11): 3116.e5-8. Le Ber Isabelle, De Septenville Anne, Millecamps Stéphanie, Camuzat Agnès, Caroppo Paola, Couratier Philippe, Blanc Frédéric, Lacomblez Lucette, Sellal François, Fleury Marie-Céline, Meininger Vincent, Cazeneuve Cécile, Clot Fabienne, Flabeau Olivier, LeGuern Eric, Brice Alexis, |
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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 |
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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 |
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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 |
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Detailed volumetric analysis of the hypothalamus in behavioral variant frontotemporal dementia.
Journal of neurology 2015 Sep . Bocchetta Martina, Gordon Elizabeth, Manning Emily, Barnes Josephine, Cash David M, Espak Miklos, Thomas David L, Modat Marc, Rossor Martin N, Warren Jason D, Ourselin Sebastien, Frisoni Giovanni B, Rohrer Jonathan |
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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 |
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Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.
Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Kovacs Gabor G, van der Zee Julie, Hort Jakub, Kristoferitsch Wolfgang, Leitha Thomas, Höftberger Romana, Ströbel Thomas, Van Broeckhoven Christine, Matej Radosl |
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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 |
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Auditory hedonic phenotypes in dementia: A behavioural and neuroanatomical analysis.
Cortex; a journal devoted to the study of the nervous system and behavior 2015 Jun 67 95-105. Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Slattery Catherine F, Paterson Ross W, Schott Jonathan M, Rohrer Jonathan D, Rossor Martin N, Warren Jason |
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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 |
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Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Mar 16 (1-2): 8-15. Floris Gianluca, Borghero Giuseppe, Cannas Antonino, Di Stefano Francesca, Ruiu Elisa, Murru Maria R, Corongiu Daniela, Cuccu Stefania, Tranquilli Stefania, Sardu Claudia, Marrosu Maria G, Chiò Adriano, Marrosu Frances |
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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
The Lancet. Neurology 2015 Mar 14 (3): 253-62. Rohrer Jonathan D, Nicholas Jennifer M, Cash David M, van Swieten John, Dopper Elise, Jiskoot Lize, van Minkelen Rick, Rombouts Serge A, Cardoso M Jorge, Clegg Shona, Espak Miklos, Mead Simon, Thomas David L, De Vita Enrico, Masellis Mario, Black Sandra E, Freedman Morris, Keren Ron, MacIntosh Bradley J, Rogaeva Ekaterina, Tang-Wai David, Tartaglia Maria Carmela, Laforce Robert, Tagliavini Fabrizio, Tiraboschi Pietro, Redaelli Veronica, Prioni Sara, Grisoli Marina, Borroni Barbara, Padovani Alessandro, Galimberti Daniela, Scarpini Elio, Arighi Andrea, Fumagalli Giorgio, Rowe James B, Coyle-Gilchrist Ian, Graff Caroline, Fallström Marie, Jelic Vesna, Ståhlbom Anne Kinhult, Andersson Christin, Thonberg Håkan, Lilius Lena, Frisoni Giovanni B, Pievani Michela, Bocchetta Martina, Benussi Luisa, Ghidoni Roberta, Finger Elizabeth, Sorbi Sandro, Nacmias Benedetta, Lombardi Gemma, Polito Cristina, Warren Jason D, Ourselin Sebastien, Fox Nick C, Rossor Martin |
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C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.
Neurobiology of aging 2015 Jan 36 (1): 547.e13-6. Koutsis Georgios, Karadima Georgia, Kartanou Chrisoula, Kladi Athina, Panas Mari |
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Longitudinal diffusion tensor imaging in frontotemporal dementia.
Annals of neurology 2015 Jan 77 (1): 33-46. Mahoney Colin J, Simpson Ivor J A, Nicholas Jennifer M, Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Schmitz Nicole, Rohrer Jonathan D, Schott Jonathan M, Zhang Hui, Ourselin Sebastian, Warren Jason D, Fox Nick |
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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Neurobiology of aging 2015 Jan 36 (1): 546.e1-7. Fratta Pietro, Polke James M, Newcombe Jia, Mizielinska Sarah, Lashley Tammaryn, Poulter Mark, Beck Jon, Preza Elisavet, Devoy Anny, Sidle Katie, Howard Robin, Malaspina Andrea, Orrell Richard W, Clarke Jan, Lu Ching-Hua, Mok Kin, Collins Toby, Shoaii Maryam, Nanji Tina, Wray Selina, Adamson Gary, Pittman Alan, Renton Alan E, Traynor Bryan J, Sweeney Mary G, Revesz Tamas, Houlden Henry, Mead Simon, Isaacs Adrian M, Fisher Elizabeth M |
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Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.
PloS one 2015 10 (12): e0145347. Xu Xijia, Xie Shiping, Shi Xiaomeng, Lv Jie, Tang Xiaowei, Wang Xiaolan, Lu Shuiping, Wang Mingzhong, Zhang Xiaobing, Sun Jing, Yao H |
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Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.
International journal of molecular sciences 2015 16 (1): 1385-94. Serpente Maria, Fenoglio Chiara, Cioffi Sara M G, Bonsi Rossana, Arighi Andrea, Fumagalli Giorgio G, Ghezzi Laura, Scarpini Elio, Galimberti Danie |
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Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.
Scientific reports 2015 5 16673. Zhou Bo, Liu Changdong, Geng Yanyan, Zhu Gua |
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C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients.
Journal of the neurological sciences 2014 Dec 347 (1-2): 104-6. Luo Yingying, Jiao Bin, Wang Junling, Du Juan, Yan Xinxiang, Xia Kun, Tang Beisha, Shen |
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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 |
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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 |
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C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2014 Nov 41 (6): 759-62. Daoud Hussein, Postuma Ronald B, Bourassa Cynthia V, Rochefort Daniel, Gauthier Maude Turcotte, Montplaisir Jacques, Gagnon Jean-Francois, Arnulf Isabelle, Dauvilliers Yves, Charley Christelle Monaca, Inoue Yuichi, Sasai Taeko, Högl Birgit, Desautels Alex, Frauscher Birgit, Cochen De Cock Valérie, Rouleau Guy A, Dion Patrick |
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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 |
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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Neurology 2014 Sep 83 (11): 990-5. Lattante Serena, Millecamps Stéphanie, Stevanin Giovanni, Rivaud-Péchoux Sophie, Moigneu Carine, Camuzat Agnès, Da Barroca Sandra, Mundwiller Emeline, Couarch Philippe, Salachas François, Hannequin Didier, Meininger Vincent, Pasquier Florence, Seilhean Danielle, Couratier Philippe, Danel-Brunaud Véronique, Bonnet Anne-Marie, Tranchant Christine, LeGuern Eric, Brice Alexis, Le Ber Isabelle, Kabashi Edor, |
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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 |
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Annals of neurology 2014 Jul 76 (1): 120-33. Diekstra Frank P, Van Deerlin Vivianna M, van Swieten John C, Al-Chalabi Ammar, Ludolph Albert C, Weishaupt Jochen H, Hardiman Orla, Landers John E, Brown Robert H, van Es Michael A, Pasterkamp R Jeroen, Koppers Max, Andersen Peter M, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden André G, van Damme Philip, Melki Judith, Meininger Vincent, Shatunov Aleksey, Shaw Christopher E, Leigh P Nigel, Shaw Pamela J, Morrison Karen E, Fogh Isabella, Chiò Adriano, Traynor Bryan J, Czell David, Weber Markus, Heutink Peter, de Bakker Paul I W, Silani Vincenzo, Robberecht Wim, van den Berg Leonard H, Veldink Jan |
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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 |
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Journal of medical genetics 2014 Jun 51 (6): 419-24. Akimoto Chizuru, Volk Alexander E, van Blitterswijk Marka, Van den Broeck Marleen, Leblond Claire S, Lumbroso Serge, Camu William, Neitzel Birgit, Onodera Osamu, van Rheenen Wouter, Pinto Susana, Weber Markus, Smith Bradley, Proven Melanie, Talbot Kevin, Keagle Pamela, Chesi Alessandra, Ratti Antonia, van der Zee Julie, Alstermark Helena, Birve Anna, Calini Daniela, Nordin Angelica, Tradowsky Daniela C, Just Walter, Daoud Hussein, Angerbauer Sabrina, DeJesus-Hernandez Mariely, Konno Takuya, Lloyd-Jani Anjali, de Carvalho Mamede, Mouzat Kevin, Landers John E, Veldink Jan H, Silani Vincenzo, Gitler Aaron D, Shaw Christopher E, Rouleau Guy A, van den Berg Leonard H, Van Broeckhoven Christine, Rademakers Rosa, Andersen Peter M, Kubisch Christi |
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Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample.
Neurobiology of aging 2014 Jun 35 (6): 1510.e1-5. Fahey Ciara, Byrne Susan, McLaughlin Russell, Kenna Kevin, Shatunov Aleksey, Donohoe Gary, Gill Michael, Al-Chalabi Ammar, Bradley Daniel G, Hardiman Orla, Corvin Aiden P, Morris Derek |
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Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.
Neurobiology of aging 2014 May 35 (5): 1213.e13-7. Kim Eun-Joo, Kwon Jay C, Park Kee Hyung, Park Kyung-Won, Lee Jae-Hong, Choi Seong Hye, Jeong Jee H, Kim Byeong C, Yoon Soo Jin, Yoon Young Chul, Kim Sangyun, Park Key-Chung, Choi Byung-Ok, Na Duk L, Ki Chang-Seok, Kim Seung Hy |
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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Neurobiology of aging 2014 May 35 (5): 1214.e1-6. Hübers Annemarie, Marroquin Nicolai, Schmoll Birgit, Vielhaber Stefan, Just Marlies, Mayer Benjamin, Högel Josef, Dorst Johannes, Mertens Thomas, Just Walter, Aulitzky Anna, Wais Verena, Ludolph Albert C, Kubisch Christian, Weishaupt Jochen H, Volk Alexander |
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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 |
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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 |
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Human molecular genetics 2014 Feb 23 (3): 749-54. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricard, Sánchez-Valle Raquel, Noguera Aina, Gómez-Tortosa Estrella, Pastor Pau, Hernández Isabel, Esteban-Pérez Jesús, Suárez-Calvet Marc, Antón-Aguirre Sofía, Amer Guillermo, Ortega-Cubero Sara, Blesa Rafael, Fortea Juan, Alcolea Daniel, Capdevila Aura, Antonell Anna, Lladó Albert, Muñoz-Blanco José Luís, Mora Jesús S, Galán-Dávila Lucía, Rodríguez De Rivera Francisco Javier, Lleó Alberto, Clarimón Jor |
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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 |
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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 |
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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 |
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Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders.
Frontiers in neurology 2014 5 59. Lin Chin-Hsien, Chen Ta-Fu, Chiu Ming-Jang, Lin Han-I, Wu Ruey-Me |
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Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Journal of neurology, neurosurgery, and psychiatry 2013 Dec . Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A |
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Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis.
Annals of neurology 2013 Nov 74 (5): 699-708. Byrne Susan, Heverin Mark, Elamin Marwa, Bede Peter, Lynch Catherine, Kenna Kevin, MacLaughlin Russell, Walsh Cathal, Al Chalabi Ammar, Hardiman Or |
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Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2013 Nov 34 (11): 2695.e11-2. Calini Daniela, Corrado Lucia, Del Bo Roberto, Gagliardi Stella, Pensato Viviana, Verde Federico, Corti Stefania, Mazzini Letizia, Milani Pamela, Castellotti Barbara, Bertolin Cinzia, Sorarù Gianni, Cereda Cristina, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Ticozzi Nicola, Landers John E, Ratti Antonia, Silani Vincenzo, |
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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 |
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Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.
Neurobiology of aging 2013 Oct . Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L |
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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 |
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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 |
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C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Annals of human genetics 2013 Sep 77 (5): 351-63. Nuytemans Karen, Bademci Güney, Kohli Martin M, Beecham Gary W, Wang Liyong, Young Juan I, Nahab Fatta, Martin Eden R, Gilbert John R, Benatar Michael, Haines Jonathan L, Scott William K, Züchner Stephan, Pericak-Vance Margaret A, Vance Jeffery |
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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
JAMA neurology 2013 Jun 70 (6): 736-41. Harms Matthew, Benitez Bruno A, Cairns Nigel, Cooper Breanna, Cooper Paul, Mayo Kevin, Carrell David, Faber Kelley, Williamson Jennifer, Bird Tom, Diaz-Arrastia Ramon, Foroud Tatiana M, Boeve Bradley F, Graff-Radford Neill R, Mayeux Richard, Chakraverty Sumitra, Goate Alison M, Cruchaga Carlos, |
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Parkinson disease is not associated with C9ORF72 repeat expansions.
Neurobiology of aging 2013 May 34 (5): 1519.e1-2. Harms Matthew B, Neumann Drexel, Benitez Bruno A, Cooper Breanna, Carrell David, Racette Brad A, Perlmutter Joel S, Goate Alison, Cruchaga Carl |
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Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
Neurobiology of aging 2013 May 34 (5): 1519.e5-12. Kohli Martin A, John-Williams Krista, Rajbhandary Ruchita, Naj Adam, Whitehead Patrice, Hamilton Kara, Carney Regina M, Wright Clinton, Crocco Elizabeth, Gwirtzman Harry E, Lang Rosalyn, Beecham Gary, Martin Eden R, Gilbert John, Benatar Michael, Small Gary W, Mash Deborah, Byrd Goldie, Haines Jonathan L, Pericak-Vance Margaret A, Züchner Steph |
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Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.
Neurobiology of aging 2013 May 34 (5): 1518.e5-7. Koppers Max, Groen Ewout J N, van Vught Paul W J, van Rheenen Wouter, Witteveen Esther, van Es Michael A, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
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Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
Journal of neurology, neurosurgery, and psychiatry 2013 Apr 84 (4): 398-401. Konno Takuya, Shiga Atsushi, Tsujino Akira, Sugai Akihiro, Kato Taisuke, Kanai Kazuaki, Yokoseki Akio, Eguchi Hiroto, Kuwabara Satoshi, Nishizawa Masatoyo, Takahashi Hitoshi, Onodera Osa |
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Screening for C9orf72 repeat expansions in parkinsonian syndromes.
Neurobiology of aging 2013 Apr 34 (4): 1311.e3-4. Yeh Tu-Hsueh, Lai Szu-Chia, Weng Yi-Hsin, Kuo Hung-Chou, Wu-Chou Yah-Huei, Huang Chia-Ling, Chen Rou-Shayn, Chang Hsiu-Chen, Traynor Bryan, Lu Chin-So |
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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
Clinical genetics 2013 Mar 83 (3): 279-83. Lindquist S G, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg L H, Vestergaard K, Hjermind L E, Stokholm J, Andersen B B, Johannsen P, Nielsen J |
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Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
JAMA neurology 2013 Mar 70 (3): 365-73. Van Langenhove Tim, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Vandenberghe Rik, Vandenbulcke Mathieu, De Bleecker Jan, Sieben Anne, Versijpt Jan, Ivanoiu Adrian, Deryck Olivier, Willems Christiana, Dillen Lubina, Philtjens Stéphanie, Maes Githa, Bäumer Veerle, Van Den Broeck Marleen, Mattheijssens Maria, Peeters Karin, Martin Jean-Jacques, Michotte Alex, Santens Patrick, De Jonghe Peter, Cras Patrick, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christi |
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C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.
Neurology 2013 Jan . Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, Pérez-Pérez J |
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
European journal of human genetics : EJHG 2013 Jan 21 (1): 102-8. Smith Bradley N, Newhouse Stephen, Shatunov Aleksey, Vance Caroline, Topp Simon, Johnson Lauren, Miller Jack, Lee Younbok, Troakes Claire, Scott Kirsten M, Jones Ashley, Gray Ian, Wright Jamie, Hortobágyi Tibor, Al-Sarraj Safa, Rogelj Boris, Powell John, Lupton Michelle, Lovestone Simon, Sapp Peter C, Weber Markus, Nestor Peter J, Schelhaas Helenius J, Asbroek Anneloor Alm Ten, Silani Vincenzo, Gellera Cinzia, Taroni Franco, Ticozzi Nicola, Van den Berg Leonard, Veldink Jan, Van Damme Phillip, Robberecht Wim, Shaw Pamela J, Kirby Janine, Pall Hardev, Morrison Karen E, Morris Alex, de Belleroche Jacqueline, Vianney de Jong J M B, Baas Frank, Andersen Peter M, Landers John, Brown Robert H, Weale Michael E, Al-Chalabi Ammar, Shaw Christopher |
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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
PloS one 2013 8 (2): e56899. Dobson-Stone Carol, Hallupp Marianne, Loy Clement T, Thompson Elizabeth M, Haan Eric, Sue Carolyn M, Panegyres Peter K, Razquin Cristina, Seijo-Martínez Manuel, Rene Ramon, Gascon Jordi, Campdelacreu Jaume, Schmoll Birgit, Volk Alexander E, Brooks William S, Schofield Peter R, Pastor Pau, Kwok John B |
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C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flowchart for Genetic Testing.
Journal of Alzheimer's disease : JAD 2012 Dec . Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A |
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Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.
Neurobiology of aging 2012 Dec . Zou ZY, Li XG, Liu MS, Cui LY |
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Extensive genetics of ALS: a population-based study in Italy.
Neurology 2012 Nov 79 (19): 1983-9. Chiò Adriano, Calvo Andrea, Mazzini Letizia, Cantello Roberto, Mora Gabriele, Moglia Cristina, Corrado Lucia, D'Alfonso Sandra, Majounie Elisa, Renton Alan, Pisano Fabrizio, Ossola Irene, Brunetti Maura, Traynor Bryan J, Restagno Gabriella, |
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C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.
Neurobiology of aging 2012 Oct 33 (10): 2528.e7-14. Ratti Antonia, Corrado Lucia, Castellotti Barbara, Del Bo Roberto, Fogh Isabella, Cereda Cristina, Tiloca Cinzia, D'Ascenzo Carla, Bagarotti Alessandra, Pensato Viviana, Ranieri Michela, Gagliardi Stella, Calini Daniela, Mazzini Letizia, Taroni Franco, Corti Stefania, Ceroni Mauro, Oggioni Gaia D, Lin Kuang, Powell John F, Sorarù Gianni, Ticozzi Nicola, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Silani Vincenzo, |
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A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.
Neurobiology of aging 2012 Sep 33 (9): 2232.e11-2232.e18. Tsai Ching-Paio, Soong Bing-Wen, Tu Pang-Hsien, Lin Kon-Ping, Fuh Jong-Ling, Tsai Pei-Chien, Lu Yi-Chun, Lee I-Hui, Lee Yi-Chu |
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Human mutation 2012 Aug . García-Redondo A, Dols-Icardo O, Rojas R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, Rodríguez de la Rivera FJ, Pastor P, Jericó I, Alvarez de Arcaya A, Mora JS, Clarimón J |
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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
Neurobiology of aging 2012 Aug 33 (8): 1848.e15-20. Sabatelli Mario, Conforti Francesca Luisa, Zollino Marcella, Mora Gabriele, Monsurrò Maria Rosaria, Volanti Paolo, Marinou Kalliopi, Salvi Fabrizio, Corbo Massimo, Giannini Fabio, Battistini Stefania, Penco Silvana, Lunetta Christian, Quattrone Aldo, Gambardella Antonio, Logroscino Giancarlo, Simone Isabella, Bartolomei Ilaria, Pisano Fabrizio, Tedeschi Gioacchino, Conte Amelia, Spataro Rossella, La Bella Vincenzo, Caponnetto Claudia, Mancardi Gianluigi, Mandich Paola, Sola Patrizia, Mandrioli Jessica, Renton Alan E, Majounie Elisa, Abramzon Yevgeniya, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Sotgiu Maria Alessandra, Pugliatti Maura, Rodolico Carmelo, , Moglia Cristina, Calvo Andrea, Ossola Irene, Brunetti Maura, Traynor Bryan J, Borghero Giuseppe, Restagno Gabriella, Chiò Adria |
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CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.
Neurobiology of aging 2012 Aug 33 (8): 1852.e1-3. Groen Ewout J N, van Rheenen Wouter, Koppers Max, van Doormaal Perry T C, Vlam Lotte, Diekstra Frank P, Dooijes Dennis, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
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Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.
Neurobiology of aging 2012 Aug 33 (8): 1851.e17-9. Dols-Icardo Oriol, Suárez-Calvet Marc, Hernández Isabel, Amer Guillermo, Antón-Aguirre Sofía, Alcolea Daniel, Fortea Juan, Boada Mercè, Tárraga Lluís, Blesa Rafael, Lleó Alberto, Clarimón Jor |
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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
Neurobiology of aging 2012 Jul . Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R |
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