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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Correlation between APOE genotype and brain metabolism in ALS.
European journal of neurology 2018 Sep . Canosa Antonio, Pagani Marco, Brunetti Maura, Barberis Marco, Iazzolino Barbara, Ilardi Antonio, Cammarosano Stefania, Manera Umberto, Moglia Cristina, Calvo Andrea, Cistaro Angelina, Chiò Adria |
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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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High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.
Neurobiology of aging 2017 Dec . Goldstein Orly, Gana-Weisz Mali, Nefussy Beatrice, Vainer Batel, Nayshool Omri, Bar-Shira Anat, Traynor Bryan J, Drory Vivian E, Orr-Urtreger A |
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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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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 |
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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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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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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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Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.
Molecular neurobiology 2016 Apr . Zhou QingQing, Chen YongPing, Wei QianQian, Cao Bei, Wu Ying, Zhao Bi, Ou RuWei, Yang Jing, Chen XuePing, Hadano Shinji, Shang Hui-Fa |
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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 |
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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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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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Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort.
Neurology 2016 Jan . Murphy Jennifer, Factor-Litvak Pam, Goetz Raymond, Lomen-Hoerth Catherine, Nagy Peter L, Hupf Jonathan, Singleton Jessica, Woolley Susan, Andrews Howard, Heitzman Daragh, Bedlack Richard S, Katz Jonathan S, Barohn Richard J, Sorenson Eric J, Oskarsson Björn, Fernandes Filho J Americo M, Kasarskis Edward J, Mozaffar Tahseen, Rollins Yvonne D, Nations Sharon P, Swenson Andrea J, Koczon-Jaremko Boguslawa A, Mitsumoto Hiroshi, |
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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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Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
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18F-FDG-PET correlates of cognitive impairment in ALS.
Neurology 2015 Nov . Canosa Antonio, Pagani Marco, Cistaro Angelina, Montuschi Anna, Iazzolino Barbara, Fania Piercarlo, Cammarosano Stefania, Ilardi Antonio, Moglia Cristina, Calvo Andrea, Chiò Adria |
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Genetic studies of Russian patients with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Nov 1-7. Lysogorskaia Elena V, Abramycheva Nataliya Yu, Zakharova Mariya N, Stepanova Mariya S, Moroz Anna A, Rossokhin Alexey V, Illarioshkin Sergey |
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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 |
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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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C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
Neurobiology of aging 2015 Oct 36 (10): 2908.e5-9. Abramycheva Natalya Y, Lysogorskaia Elena V, Stepanova Maria S, Zakharova Maria N, Kovrazhkina Elena A, Razinskaya Olga D, Smirnov Andrey P, Maltsev Andrey V, Ustyugov Alexey A, Kukharsky Michail S, Khritankova Inna V, Bachurin Sergey O, Cooper-Knock Johnathan, Buchman Vladimir L, Illarioshkin Sergey N, Skvortsova Veronika I, Ninkina Natal |
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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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HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Neurobiology of aging 2015 Oct 36 (10): 2906.e7-2906.e11. Chiò Adriano, Mora Gabriele, Sabatelli Mario, Caponnetto Claudia, Lunetta Christian, Traynor Bryan J, Johnson Janel O, Nalls Mike A, Calvo Andrea, Moglia Cristina, Borghero Giuseppe, Monsurrò Maria Rosaria, La Bella Vincenzo, Volanti Paolo, Simone Isabella, Salvi Fabrizio, Logullo Francesco O, Nilo Riva, Giannini Fabio, Mandrioli Jessica, Tanel Raffaella, Murru Maria Rita, Mandich Paola, Zollino Marcella, Conforti Francesca L, Penco Silvana, , , Brunetti Maura, Barberis Marco, Restagno Gabriel |
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C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 2015 Sep 36 (9): 2660.e1-8. He Ji, Tang Lu, Benyamin Beben, Shah Sonia, Hemani Gib, Liu Rong, Ye Shan, Liu Xiaolu, Ma Yan, Zhang Huagang, Cremin Katie, Leo Paul, Wray Naomi R, Visscher Peter M, Xu Huji, Brown Matthew A, Bartlett Perry F, Mangelsdorf Marie, Fan Dongshe |
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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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Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.
Acta neuropathologica 2015 Sep 130 (3): 363-72. Suh EunRan, Lee Edward B, Neal Donald, Wood Elisabeth M, Toledo Jon B, Rennert Lior, Irwin David J, McMillan Corey T, Krock Bryan, Elman Lauren B, McCluskey Leo F, Grossman Murray, Xie Sharon X, Trojanowski John Q, Van Deerlin Vivianna |
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De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiology of aging 2015 Aug . Hübers Annemarie, Just Walter, Rosenbohm Angela, Müller Kathrin, Marroquin Nicolai, Goebel Ingrid, Högel Josef, Thiele Holger, Altmüller Janine, Nürnberg Peter, Weishaupt Jochen H, Kubisch Christian, Ludolph Albert C, Volk Alexander |
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Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Bury Joanna J, Highley J Robin, Cooper-Knock Johnathan, Goodall Emily F, Higginbottom Adrian, McDermott Christopher J, Ince Paul G, Shaw Pamela J, Kirby Jani |
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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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Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2015 May 36 (5): 2005.e1-4. Lin Kon-Ping, Tsai Pei-Chien, Liao Yi-Chu, Chen Wei-Ting, Tsai Ching-Piao, Soong Bing-Wen, Lee Yi-Chu |
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Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Neuromuscular disorders : NMD 2015 Apr 25 (4): 289-96. Weihl Conrad C, Baloh Robert H, Lee Youjin, Chou Tsui-Fen, Pittman Sara K, Lopate Glenn, Allred Peggy, Jockel-Balsarotti Jennifer, Pestronk Alan, Harms Matthew |
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The distinct genetic pattern of ALS in Turkey and novel mutations.
Neurobiology of aging 2015 Apr 36 (4): 1764.e9-18. Özo?uz Asl?han, Uyan Özgün, Birdal Güne?, Iskender Ceren, Kartal Ece, Lahut Suna, Ömür Özgür, Agim Zeynep Sena, Eken Asl? Gündo?du, Sen Nesli Ece, Kavak P?nar, Sayg? Ceren, Sapp Peter C, Keagle Pamela, Parman Ye?im, Tan Ersin, Koç Filiz, Deymeer Feza, Oflazer Piraye, Hana?as? Ha?met, Gürvit Hakan, Bilgiç Ba?ar, Durmu? Hacer, Erta? Mustafa, Kotan Dilcan, Akal?n Mehmet Ali, Güllüo?lu Halil, Zarifo?lu Mehmet, Aysal Fikret, Dö?o?lu Nilgün, Bilguvar Kaya, Günel Murat, Keskin Özlem, Akgün Tahsin, Özçelik Hilmi, Landers John E, Brown Robert H, Ba?ak A Naz |
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Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.
Neurobiology of aging 2015 Mar 36 (3): 1601.e17-20. Vrabec Katarina, Koritnik Blaž, Leonardis Lea, Dolenc-Grošelj Leja, Zidar Janez, Smith Bradley, Vance Caroline, Shaw Christopher, Rogelj Boris, Glava? Damjan, Ravnik-Glava? Met |
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VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.
Journal of the neurological sciences 2015 Feb 349 (1-2): 209-13. Kwok Chun Tak, Wang Hsiang-Ya, Morris Alex G, Smith Bradley, Shaw Christopher, de Belleroche Jack |
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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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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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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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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 |
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Genetic architecture of ALS in Sardinia.
Neurobiology of aging 2014 Dec 35 (12): 2882.e7-2882.e12. Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Parish Leslie D, Occhineri Patrizia, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Pliner Hannah A, Renton Alan E, Nalls Mike A, Traynor Bryan J, Restagno Gabriella, Chiò Adriano, |
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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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Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
Neurobiology of aging 2014 Nov 35 (11): 2658.e1-5. Lattante Serena, Le Ber Isabelle, Galimberti Daniela, Serpente Maria, Rivaud-Péchoux Sophie, Camuzat Agnès, Clot Fabienne, Fenoglio Chiara, , Scarpini Elio, Brice Alexis, Kabashi Ed |
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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, |
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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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Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2014 Oct 35 (10): 2423.e1-6. Soong Bing-Wen, Lin Kon-Ping, Guo Yuh-Cherng, Lin Chou-Ching K, Tsai Pei-Chien, Liao Yi-Chu, Lu Yi-Chun, Wang Shuu-Jiun, Tsai Ching-Piao, Lee Yi-Chu |
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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, |
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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Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
Neurobiology of aging 2014 Jul 35 (7): 1778.e9-1778.e23. Xie Tong, Deng Libin, Mei Puming, Zhou Yiyi, Wang Bo, Zhang Jie, Lin Jiari, Wei Yi, Zhang Xiong, Xu Rens |
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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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C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia.
Neurobiology of aging 2014 May 35 (5): 1214.e7-1214.e10. Galimberti Daniela, Reif Andreas, Dell'osso Bernardo, Kittel-Schneider Sarah, Leonhard Christine, Herr Alexandra, Palazzo Carlotta, Villa Chiara, Fenoglio Chiara, Serpente Maria, Cioffi Sara M G, Prunas Cecilia, Paoli Riccardo A, Altamura A Carlo, Scarpini El |
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C9ORF72 repeat expansion not detected in patients with multiple sclerosis.
Neurobiology of aging 2014 May 35 (5): 1213.e1-2. Fenoglio Chiara, De Riz Milena, Villa Chiara, Serpente Maria, Ridolfi Elisa, Bonsi Rossana, Cioffi Sara M G, Barone Cinzia, Pietroboni Anna, Calvi Alberto, Scarpini Elio, Galimberti Danie |
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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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Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Neurobiology of aging 2014 May 35 (5): 1212.e7-1212.e10. Bertolin Cinzia, D'Ascenzo Carla, Querin Giorgia, Gaiani Alessandra, Boaretto Francesca, Salvoro Cecilia, Vazza Giovanni, Angelini Corrado, Cagnin Annachiara, Pegoraro Elena, Sorarù Gianni, Mostacciuolo Maria Lui |
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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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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 |
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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 is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
Acta neuropathologica 2014 Mar 127 (3): 407-18. Gallagher Michael D, Suh Eunran, Grossman Murray, Elman Lauren, McCluskey Leo, Van Swieten John C, Al-Sarraj Safa, Neumann Manuela, Gelpi Ellen, Ghetti Bernardino, Rohrer Jonathan D, Halliday Glenda, Van Broeckhoven Christine, Seilhean Danielle, Shaw Pamela J, Frosch Matthew P, Alafuzoff Irina, Antonell Anna, Bogdanovic Nenad, Brooks William, Cairns Nigel J, Cooper-Knock Johnathan, Cotman Carl, Cras Patrick, Cruts Marc, De Deyn Peter P, DeCarli Charles, Dobson-Stone Carol, Engelborghs Sebastiaan, Fox Nick, Galasko Douglas, Gearing Marla, Gijselinck Ilse, Grafman Jordan, Hartikainen Päivi, Hatanpaa Kimmo J, Highley J Robin, Hodges John, Hulette Christine, Ince Paul G, Jin Lee-Way, Kirby Janine, Kofler Julia, Kril Jillian, Kwok John B J, Levey Allan, Lieberman Andrew, Llado Albert, Martin Jean-Jacques, Masliah Eliezer, McDermott Christopher J, McKee Ann, McLean Catriona, Mead Simon, Miller Carol A, Miller Josh, Munoz David G, Murrell Jill, Paulson Henry, Piguet Olivier, Rossor Martin, Sanchez-Valle Raquel, Sano Mary, Schneider Julie, Silbert Lisa C, Spina Salvatore, van der Zee Julie, Van Langenhove Tim, Warren Jason, Wharton Stephen B, White Charles L, Woltjer Randall L, Trojanowski John Q, Lee Virginia M Y, Van Deerlin Vivianna, Chen-Plotkin Alice |
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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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UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.
Neurobiology of aging 2014 Jan 35 (1): 267.e9-11. McLaughlin Russell Lewis, Kenna Kevin Patrick, Vajda Alice, Byrne Susan, Bradley Daniel G, Hardiman Or |
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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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Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study.
Neurobiology of aging 2013 Dec 34 (12): 2890.e7-2890.e12. Debray Sarah, Race Valérie, Crabbé Veerle, Herdewyn Sarah, Matthijs Gert, Goris An, Dubois Bénédicte, Thijs Vincent, Robberecht Wim, Van Damme Phil |
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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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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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Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.
Neurobiology of aging 2013 Sep 34 (9): 2234.e1-7. Jones Ashley R, Woollacott Ione, Shatunov Aleksey, Cooper-Knock Johnathan, Buchman Vladimir, Sproviero William, Smith Bradley, Scott Kirsten M, Balendra Rubika, Abel Olubunmi, McGuffin Peter, Ellis Catherine M, Shaw Pamela J, Morrison Karen E, Farmer Anne, Lewis Cathryn M, Leigh P Nigel, Shaw Christopher E, Powell John F, Al-Chalabi Amm |
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Multiparametric MRI study of ALS stratified for the C9orf72 genotype.
Neurology 2013 Jul 81 (4): 361-9. Bede Peter, Bokde Arun L W, Byrne Susan, Elamin Marwa, McLaughlin Russell L, Kenna Kevin, Fagan Andrew J, Pender Niall, Bradley Daniel G, Hardiman Or |
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C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.
JAMA neurology 2013 Jun 70 (6): 742-5. Dombroski Beth A, Galasko Douglas R, Mata Ignacio F, Zabetian Cyrus P, Craig Ulla-Katrina, Garruto Ralph M, Oyanagi Kiyomitsu, Schellenberg Gerard |
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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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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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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 |
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Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.
Journal of neurology 2013 Jan 260 (1): 85-92. Ticozzi Nicola, Tiloca Cinzia, Mencacci Niccolò E, Morelli Claudia, Doretti Alberto, Rusconi Daniela, Colombrita Claudia, Sangalli Davide, Verde Federico, Finelli Palma, Messina Stefano, Ratti Antonia, Silani Vincen |
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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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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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Parental age and the risk of amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2012 Nov . de Jong SW, Huisman MH, Hennekam EA, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH |
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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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Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.
Journal of neurology, neurosurgery, and psychiatry 2012 Oct . Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ, Price S, McDermott CJ, Sawcer S, Compston DA, Sharrack B, Shaw PJ |
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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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Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.
Neurology 2012 Jul 79 (1): 66-72. Lattante Serena, Conte Amelia, Zollino Marcella, Luigetti Marco, Del Grande Alessandra, Marangi Giuseppe, Romano Angela, Marcaccio Alessandro, Meleo Emiliana, Bisogni Giulia, Rossini Paolo Maria, Sabatelli Mar |
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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 |
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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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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
The Lancet. Neurology 2012 Apr 11 (4): 323-30. Majounie Elisa, Renton Alan E, Mok Kin, Dopper Elise G P, Waite Adrian, Rollinson Sara, Chiò Adriano, Restagno Gabriella, Nicolaou Nayia, Simon-Sanchez Javier, van Swieten John C, Abramzon Yevgeniya, Johnson Janel O, Sendtner Michael, Pamphlett Roger, Orrell Richard W, Mead Simon, Sidle Katie C, Houlden Henry, Rohrer Jonathan D, Morrison Karen E, Pall Hardev, Talbot Kevin, Ansorge Olaf, , , , Hernandez Dena G, Arepalli Sampath, Sabatelli Mario, Mora Gabriele, Corbo Massimo, Giannini Fabio, Calvo Andrea, Englund Elisabet, Borghero Giuseppe, Floris Gian Luca, Remes Anne M, Laaksovirta Hannu, McCluskey Leo, Trojanowski John Q, Van Deerlin Vivianna M, Schellenberg Gerard D, Nalls Michael A, Drory Vivian E, Lu Chin-Song, Yeh Tu-Hsueh, Ishiura Hiroyuki, Takahashi Yuji, Tsuji Shoji, Le Ber Isabelle, Brice Alexis, Drepper Carsten, Williams Nigel, Kirby Janine, Shaw Pamela, Hardy John, Tienari Pentti J, Heutink Peter, Morris Huw R, Pickering-Brown Stuart, Traynor Bryan |
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Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Journal of medical genetics 2012 Apr 49 (4): 258-63. Millecamps Stéphanie, Boillée Séverine, Le Ber Isabelle, Seilhean Danielle, Teyssou Elisa, Giraudeau Marine, Moigneu Carine, Vandenberghe Nadia, Danel-Brunaud Véronique, Corcia Philippe, Pradat Pierre-François, Le Forestier Nadine, Lacomblez Lucette, Bruneteau Gaelle, Camu William, Brice Alexis, Cazeneuve Cécile, Leguern Eric, Meininger Vincent, Salachas Franço |
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Brain : a journal of neurology 2012 Mar 135 (Pt 3): 784-93. Chiò Adriano, Borghero Giuseppe, Restagno Gabriella, Mora Gabriele, Drepper Carsten, Traynor Bryan J, Sendtner Michael, Brunetti Maura, Ossola Irene, Calvo Andrea, Pugliatti Maura, Sotgiu Maria Alessandra, Murru Maria Rita, Marrosu Maria Giovanna, Marrosu Francesco, Marinou Kalliopi, Mandrioli Jessica, Sola Patrizia, Caponnetto Claudia, Mancardi Gianluigi, Mandich Paola, La Bella Vincenzo, Spataro Rossella, Conte Amelia, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Pisano Fabrizio, Bartolomei Ilaria, Salvi Fabrizio, Lauria Pinter Giuseppe, Simone Isabella, Logroscino Giancarlo, Gambardella Antonio, Quattrone Aldo, Lunetta Christian, Volanti Paolo, Zollino Marcella, Penco Silvana, Battistini Stefania, , Renton Alan E, Majounie Elisa, Abramzon Yevgeniya, Conforti Francesca Luisa, Giannini Fabio, Corbo Massimo, Sabatelli Mar |
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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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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 |
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