HuGE Literature Finder
Records 1-30
|
Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease.
Neurobiology of aging 2019 Nov . Rosas Irene, Martínez Carmen, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, Álvarez Victoria, Menéndez-González Manu |
|
Prevalence of C9ORF72 Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus.
Dementia and geriatric cognitive disorders 2019 Mar 47 (1-2): 91-103. Korhonen Ville E, Remes Anne M, Helisalmi Seppo, Rauramaa Tuomas, Sutela Anna, Vanninen Ritva, Suhonen Noora-Maria, Haapasalo Annakaisa, Hiltunen Mikko, Jääskeläinen Juha E, Soininen Hilkka, Koivisto Anne M, Leinonen Vil |
|
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 |
|
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 |
|
The multistep hypothesis of ALS revisited: The role of genetic mutations.
Neurology 2018 Aug 91 (7): e635-e642. Chiò Adriano, Mazzini Letizia, D'Alfonso Sandra, Corrado Lucia, Canosa Antonio, Moglia Cristina, Manera Umberto, Bersano Enrica, Brunetti Maura, Barberis Marco, Veldink Jan H, van den Berg Leonard H, Pearce Neil, Sproviero William, McLaughlin Russell, Vajda Alice, Hardiman Orla, Rooney James, Mora Gabriele, Calvo Andrea, Al-Chalabi Amm |
|
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.
Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman |
|
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, |
|
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 |
|
Mutation screening of NEK1 in Chinese ALS patients.
Neurobiology of aging 2018 Jun . Shu Shi, Lei Xingxing, Liu Fang, Cui Bo, Liu Qing, Ding Qingyun, Liu Ming Sheng, Li Xiao Guang, Cui Liying, Zhang X |
|
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
|
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 |
|
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 |
|
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Brain : a journal of neurology 2018 10 141 (10): 2895-2907. Zhang Ming, Ferrari Raffaele, Tartaglia Maria Carmela, Keith Julia, Surace Ezequiel I, Wolf Uri, Sato Christine, Grinberg Mark, Liang Yan, Xi Zhengrui, Dupont Kyle, McGoldrick Philip, Weichert Anna, McKeever Paul M, Schneider Raphael, McCorkindale Michael D, Manzoni Claudia, Rademakers Rosa, Graff-Radford Neill R, Dickson Dennis W, Parisi Joseph E, Boeve Bradley F, Petersen Ronald C, Miller Bruce L, Seeley William W, van Swieten John C, van Rooij Jeroen, Pijnenburg Yolande, van der Zee Julie, Van Broeckhoven Christine, Le Ber Isabelle, Van Deerlin Vivianna, Suh EunRan, Rohrer Jonathan D, Mead Simon, Graff Caroline, Öijerstedt Linn, Pickering-Brown Stuart, Rollinson Sara, Rossi Giacomina, Tagliavini Fabrizio, Brooks William S, Dobson-Stone Carol, Halliday Glenda M, Hodges John R, Piguet Olivier, Binetti Giuliano, Benussi Luisa, Ghidoni Roberta, Nacmias Benedetta, Sorbi Sandro, Bruni Amalia C, Galimberti Daniela, Scarpini Elio, Rainero Innocenzo, Rubino Elisa, Clarimon Jordi, Lleó Alberto, Ruiz Agustin, Hernández Isabel, Pastor Pau, Diez-Fairen Monica, Borroni Barbara, Pasquier Florence, Deramecourt Vincent, Lebouvier Thibaud, Perneczky Robert, Diehl-Schmid Janine, Grafman Jordan, Huey Edward D, Mayeux Richard, Nalls Michael A, Hernandez Dena, Singleton Andrew, Momeni Parastoo, Zeng Zhen, Hardy John, Robertson Janice, Zinman Lorne, Rogaeva Ekaterina, |
|
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.
Neurobiology of aging 2018 04 64 157.e1-157.e5. Lattante Serena, Pomponi Maria Grazia, Conte Amelia, Marangi Giuseppe, Bisogni Giulia, Patanella Agata Katia, Meleo Emiliana, Lunetta Christian, Riva Nilo, Mosca Lorena, Carrera Paola, Bee Marco, Zollino Marcella, Sabatelli Mar |
|
Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2018 08 19 (5-6): 426-431. Corrado Lucia, Tiloca Cinzia, Locci Clarissa, Bagarotti Alessandra, Hamzeiy Hamid, Colombrita Claudia, De Marchi Fabiola, Barizzone Nadia, Cotella Diego, Ticozzi Nicola, Mazzini Letizia, Nazli Basak Ayse, Ratti Antonia, Silani Vincenzo, D'alfonso Sand |
|
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 |
|
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 |
|
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 |
|
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 |
|
The evolving genetic risk for sporadic ALS.
Neurology 2017 Jul 89 (3): 226-233. Gibson Summer B, Downie Jonathan M, Tsetsou Spyridoula, Feusier Julie E, Figueroa Karla P, Bromberg Mark B, Jorde Lynn B, Pulst Stefan |
|
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 |
|
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain : a journal of neurology 2017 Jun 140 (6): 1611-1618. Morgan Sarah, Shatunov Aleksey, Sproviero William, Jones Ashley R, Shoai Maryam, Hughes Deborah, Al Khleifat Ahmad, Malaspina Andrea, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Sidle Katie, Orrell Richard W, Fratta Pietro, Hardy John, Pittman Alan, Al-Chalabi Amm |
|
A Genome-wide Expression Association Analysis Identifies Genes and Pathways Associated with Amyotrophic Lateral Sclerosis.
Cellular and molecular neurobiology 2017 Jun . Du Yanan, Wen Yan, Guo Xiong, Hao Jingcan, Wang Wenyu, He Awen, Fan Qianrui, Li Ping, Liu Li, Liang Xiao, Zhang Fe |
|
Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.
Journal of neurology 2017 Jun 264 (6): 1091-1098. Marjanovic Ivan V, Selak-Djokic Biljana, Peric Stojan, Jankovic Milena, Arsenijevic Vladimir, Basta Ivana, Lavrnic Dragana, Stefanova Elka, Stevic Zori |
|
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 |
|
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 |
|
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 |
|
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
Neurobiology of aging 2017 Jan . Tripolszki Kornélia, Csányi Bernadett, Nagy Dóra, Ratti Antonia, Tiloca Cinzia, Silani Vincenzo, Kereszty Éva, Török Nóra, Vécsei László, Engelhardt József I, Klivényi Péter, Nagy Nikoletta, Széll Már |
|
Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Journal of neurology, neurosurgery, and psychiatry 2017 Jan . Zou Zhang-Yu, Zhou Zhi-Rui, Che Chun-Hui, Liu Chang-Yun, He Rao-Li, Huang Hua-P |
|
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
Clinical genetics 2017 Jan . McCann Emily P, Williams Kelly L, Fifita Jennifer A, Tarr Ingrid S, O'Connor Jody, Rowe Dominic B, Nicholson Garth A, Blair Ian |
|
C9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (ALSci).
Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 11 18 (7-8): 549-554. Volkening Kathryn, Strong Wendy L, Seaton Shauntel, Yang Wencheng, Strong Michael |
|
Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.
Neurobiology of aging 2017 05 53 194.e1-194.e8. Nishiyama Ayumi, Niihori Tetsuya, Warita Hitoshi, Izumi Rumiko, Akiyama Tetsuya, Kato Masaaki, Suzuki Naoki, Aoki Yoko, Aoki Masas |
|
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.
Journal of human genetics 2016 Dec 61 (12): 1003-1008. Shi Zhihong, Liu Shuai, Xiang Lei, Wang Ying, Liu Mengyuan, Liu Shuling, Han Tong, Zhou Yuying, Wang Jinhuan, Cai Li, Gao Shuo, Ji Yo |
|
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 |
|
A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.
Molecular and cellular probes 2016 Oct . Biasiotto Giorgio, Archetti Silvana, Di Lorenzo Diego, Merola Francesca, Paiardi Giulia, Borroni Barbara, Alberici Antonella, Padovani Alessandro, Filosto Massimiliano, Bonvicini Cristian, Caimi Luigi, Zanella Isabel |
|
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 |
|
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 |
|
Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.
Neurology 2016 Aug . Rohrer Jonathan D, Woollacott Ione O C, Dick Katrina M, Brotherhood Emilie, Gordon Elizabeth, Fellows Alexander, Toombs Jamie, Druyeh Ronald, Cardoso M Jorge, Ourselin Sebastien, Nicholas Jennifer M, Norgren Niklas, Mead Simon, Andreasson Ulf, Blennow Kaj, Schott Jonathan M, Fox Nick C, Warren Jason D, Zetterberg Henr |
|
C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.
Journal of neural transmission (Vienna, Austria : 1996) 2016 Jul . Chen Xueping, Chen Yongping, Wei Qianqian, Ou Ruwei, Cao Bei, Zhao Bi, Shang Hui-Fa |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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, |
|
Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes.
Human molecular genetics 2016 07 25 (13): 2681-2697. Busch Johanna I, Unger Travis L, Jain Nimansha, Tyler Skrinak R, Charan Rakshita A, Chen-Plotkin Alice |
|
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 |
|
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Frontiers in molecular neuroscience 2016 9 92. Krüger Stefanie, Battke Florian, Sprecher Andrea, Munz Marita, Synofzik Matthis, Schöls Ludger, Gasser Thomas, Grehl Torsten, Prudlo Johannes, Biskup Sask |
|
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 |
|
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, |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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, |
|
A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The TARDBP Ala382Thr mutation and C9orf72 expansion.
Journal of the neurological sciences 2015 Oct 357 (1-2): 229-34. Lorefice L, Murru , Fenu G, Corongiu D, Frau J, Cuccu S, Coghe G C, Tranquilli S, Cocco E, Marrosu M |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.
PloS one 2015 10 (6): e0130336. Wang Chunrong, Chen Zhao, Yang Fang, Jiao Bin, Peng Huirong, Shi Yuting, Wang Yaqin, Huang Fengzhen, Wang Junling, Shen Lu, Xia Kun, Tang Beisha, Ashizawa Tetsuo, Jiang Ho |
|
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 |
|
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 |
|
Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2014 Dec 15 (7-8): 563-8. Alías Laura, Bernal Sara, Barceló Maria J, Martínez-Hernández Rebeca, Martínez Elisabeth, Baiget Montserrat, Tizzano Eduardo |
|
C9orf72 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 |
|
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 |
|
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, |
|
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 |
|
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 |
|
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, |
|
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.
Journal of neurology 2014 Oct 261 (10): 1917-21. Kosti? Vladimir S, Dobri?i? Valerija, Stankovi? Iva, Rali? Vesna, Stefanova El |
|
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 |
|
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, |
|
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Neurobiology of aging 2014 Aug 35 (8): 1957.e1-6. Jiao Bin, Tang Beisha, Liu Xiaoyan, Xu Jun, Wang Yanjiang, Zhou Lin, Zhang Fufeng, Yan Xinxiang, Zhou Yafang, Shen |
|
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 |
- Page last reviewed:Mar 16, 2019
- Page last updated:Apr 02, 2020
- Content source: