Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Counseling and C9orf72[original query] |
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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 |
| C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart 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 |
| C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American journal of neurodegenerative disease 2012 1 (1): 1. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R |
| 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 |
| PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. Journal of neurology 2014 Dec 261 (12): 2387-92. Syriani Enrique, Salvans Candi, Salvadó Maria, Morales Miguel, Lorenzo Laura, Cazorla Sonia, Gamez Jos |
| 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 |
| Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics. Neurology. Genetics 2017 12 3 (6): e203. Barbier Mathieu, Camuzat Agnès, Houot Marion, Clot Fabienne, Caroppo Paola, Fournier Clémence, Rinaldi Daisy, Pasquier Florence, Hannequin Didier, Pariente Jérémie, Larcher Kathy, , , Brice Alexis, Génin Emmanuelle, Sabbagh Audrey, Le Ber Isabel |
| The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort. Journal of Alzheimer's disease : JAD 2017 12 61 (2): 753-760. Fostinelli Silvia, Ciani Miriam, Zanardini Roberta, Zanetti Orazio, Binetti Giuliano, Ghidoni Roberta, Benussi Lui |
| Psychiatric disorders in C9orf72 kindreds: Study of 1,414 family members. Neurology 2018 9 91 (16): e1498-e1507. Devenney Emma M, Ahmed Rebekah M, Halliday Glenda, Piguet Olivier, Kiernan Matthew C, Hodges John |
| Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 9 30 (2): 252-258. Volk Alexander E, Weishaupt Jochen H, Andersen Peter M, Ludolph Albert C, Kubisch Christi |
| Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients. Neurobiology of aging 2018 3 66 179.e5-179.e16. Lamp Merit, Origone Paola, Geroldi Alessandro, Verdiani Simonetta, Gotta Fabio, Caponnetto Claudia, Devigili Grazia, Verriello Lorenzo, Scialò Carlo, Cabona Corrado, Canosa Antonio, Vanni Irene, Bellone Emilia, Eleopra Roberto, Mandich Pao |
| Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2019 Mar . Song Yang, Lin Feng, Ye Cheng-Hui, Huang Huaping, Li Xuying, Yao Xiaoli, Xu Yanming, Wang Chaodo |
| Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data. Tremor and other hyperkinetic movements (New York, N.Y.) 2020 8 10 5. Rikos Dimitrios, Marogianni Chrysoula, Provatas Antonios, Bourinaris Thomas, Arnaoutoglou Marianthi, Stathis Pantelis, Patrinos George P, Dardiotis Efthimios, Hadjigeorgiou George M, Xiromerisiou Georg |
| The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. Annals of neurology 2020 7 88 (4): 796-806. Tan Harold H G, Westeneng Henk-Jan, van der Burgh Hannelore K, van Es Michael A, Bakker Leonhard A, van Veenhuijzen Kevin, van Eijk Kristel R, van Eijk Ruben P A, Veldink Jan H, van den Berg Leonard |
| Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurology. Genetics 2020 2 5 (6): e374. Amador Maria-Del-Mar, Muratet François, Teyssou Elisa, Banneau Guillaume, Danel-Brunaud Véronique, Allart Etienne, Antoine Jean-Christophe, Camdessanché Jean-Philippe, Anheim Mathieu, Rudolf Gabrielle, Tranchant Christine, Fleury Marie-Céline, Bernard Emilien, Stevanin Giovanni, Millecamps Stéphan |
| Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry 2021 Sep . Wagner Matias, Lorenz Georg, Volk Alexander E, Brunet Theresa, Edbauer Dieter, Berutti Riccardo, Zhao Chen, Anderl-Straub Sarah, Bertram Lars, Danek Adrian, Deschauer Marcus, Dill Veronika, Fassbender Klaus, Fliessbach Klaus, Götze Katharina S, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Lauer Martin, Obrig Hellmuth, Prudlo Johannes, Schneider Anja, Schroeter Matthias L, Uttner Ingo, Vukovich Ruth, Wiltfang Jens, Winkler Andrea S, Zhou Qihui, Ludolph Albert C, , Oexle Konrad, Otto Markus, Diehl-Schmid Janine, Winkelmann Julia |
| Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. Neurobiology of aging 2022 8 119 117-126. Witzel Simon, Wagner Matias, Zhao Chen, Kandler Katharina, Graf Elisabeth, Berutti Riccardo, Oexle Konrad, Brenner David, Winkelmann Juliane, Ludolph Albert |
| The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions. Frontiers in neurology 2022 8 13 939775. Tang Lu, Chen Lu, Liu Xiaolu, He Ji, Ma Yan, Zhang Nan, Fan Dongshe |
| C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds. Neurology. Genetics 2023 12 10 (1): e200112. Marie Ryan, Mark A Doherty, Ahmad Al Khleifat, Emmet Costello, Jennifer C Hengeveld, Mark Heverin, Ammar Al-Chalabi, Russell L Mclaughlin, Orla Hardim |
| Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
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